UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484038A>T , CM000678.2:g.28484038A>T | GRCh38 |
| NC_000016.9:g.28495359A>T , CM000678.1:g.28495359A>T | GRCh37 |
| NC_000016.8:g.28402860A>T | NCBI36 |
| NG_008654.2:g.13265T>A , LRG_689:g.13265T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.686T>A | ENSP00000329171.9:p.Leu229His | |
| ENST00000355477.10:c.614T>A | ENSP00000347660.7:p.Leu205His | |
| ENST00000357857.14:c.596T>A | ENSP00000350523.9:p.Leu199His | |
| ENST00000359984.12:c.758T>A | ENSP00000353073.9:p.Leu253His | |
| ENST00000360019.8:c.686T>A | ENSP00000353116.3:p.Leu229His | |
| ENST00000395653.9:c.299T>A | ENSP00000379014.5:p.Leu100His | |
| ENST00000561689.6:n.1043T>A | ||
| ENST00000564091.6:c.98T>A | ENSP00000454466.2:p.Leu33His | |
| ENST00000565316.6:c.758T>A | ENSP00000456117.1:p.Leu253His | |
| ENST00000565778.6:c.389T>A | ENSP00000458015.1:p.Leu130His | |
| ENST00000566083.6:n.1216T>A | ||
| ENST00000566824.6:n.738T>A | ||
| ENST00000567963.6:c.596T>A | ENSP00000455387.2:p.Leu199His | |
| ENST00000568076.6:n.885T>A | ||
| ENST00000568422.6:c.541T>A | ENSP00000455549.2:p.Ser181Thr | |
| ENST00000568452.6:n.861T>A | ||
| ENST00000568472.6:n.634T>A | ||
| ENST00000568497.6:c.-212T>A | ENSP00000456414.2:n.-212T>A | |
| ENST00000568558.6:c.461T>A | ENSP00000455603.2:p.Leu154His | |
| ENST00000569430.7:c.758T>A | ENSP00000454229.1:p.Leu253His | |
| ENST00000628023.3:c.*54T>A | ENSP00000486178.1:n.*54T>A | |
| ENST00000635861.1:c.*282T>A | ENSP00000490034.1:n.*282T>A | |
| ENST00000635887.1:c.758T>A | ENSP00000490709.1:p.Leu253His | |
| ENST00000635958.1:n.869T>A | ||
| ENST00000635973.1:c.509T>A | ENSP00000490363.1:p.Leu170His | |
| ENST00000636017.1:c.*282T>A | ENSP00000490538.1:n.*282T>A | |
| ENST00000636078.1:n.800T>A | ||
| ENST00000636147.2:c.758T>A MANE Select | ENSP00000490105.1:p.Leu253His | |
| ENST00000636172.1:c.*282T>A | ENSP00000490505.1:n.*282T>A | |
| ENST00000636228.1:c.452T>A | ENSP00000489627.1:p.Leu151His | |
| ENST00000636351.1:n.478T>A | ||
| ENST00000636503.1:c.758T>A | ENSP00000489824.1:p.Leu253His | |
| ENST00000636685.1:n.265T>A | ||
| ENST00000636766.1:c.758T>A | ENSP00000489841.1:p.Leu253His | |
| ENST00000636839.1:n.910T>A | ||
| ENST00000636853.1:n.1673T>A | ||
| ENST00000636866.1:c.758T>A | ENSP00000490880.1:p.Leu253His | |
| ENST00000636907.1:n.909T>A | ||
| ENST00000636977.1:n.1826T>A | ||
| ENST00000637050.1:n.845T>A | ||
| ENST00000637100.1:c.758T>A | ENSP00000490394.1:p.Leu253His | |
| ENST00000637107.1:c.*282T>A | ENSP00000490248.1:n.*282T>A | |
| ENST00000637184.1:c.758T>A | ENSP00000489952.1:p.Leu253His | |
| ENST00000637299.1:c.*567T>A | ENSP00000489823.1:n.*567T>A | |
| ENST00000637376.1:c.758T>A | ENSP00000490758.1:p.Leu253His | |
| ENST00000637578.1:c.*282T>A | ENSP00000490206.1:n.*282T>A | |
| ENST00000637699.1:c.541T>A | ENSP00000490049.1:p.Ser181Thr | |
| ENST00000637745.1:c.97T>A | ||
| ENST00000637871.1:c.*282T>A | ENSP00000490670.1:n.*282T>A | |
| ENST00000333496.13:c.686T>A | ENSP00000329171.9:p.Leu229His | |
| ENST00000355477.9:c.541T>A | ENSP00000347660.6:p.Ser181Thr | |
| ENST00000357806.11:c.461T>A | ENSP00000350457.7:p.Leu154His | |
| ENST00000357857.13:c.596T>A | ENSP00000350523.9:p.Leu199His | |
| ENST00000359984.11:c.452T>A | ENSP00000353073.8:p.Leu151His | |
| ENST00000360019.6:c.758T>A | ENSP00000353116.2:p.Leu253His | |
| ENST00000395653.8:c.458T>A | ENSP00000379014.4:p.Leu153His | |
| ENST00000561689.5:n.599T>A | ||
| ENST00000563874.5:n.2112T>A | ||
| ENST00000564574.5:n.806T>A | ||
| ENST00000565047.1:n.352T>A | ||
| ENST00000565140.5:c.541T>A | ENSP00000455342.1:p.Ser181Thr | |
| ENST00000565316.5:c.758T>A | ENSP00000456117.1:p.Leu253His | |
| ENST00000565688.5:c.509T>A | ENSP00000456122.1:p.Leu170His | |
| ENST00000565778.5:c.389T>A | ENSP00000458015.1:p.Leu130His | |
| ENST00000566057.5:c.372T>A | ENSP00000456693.1:n.372T>A | |
| ENST00000566083.5:n.989T>A | ||
| ENST00000566824.5:n.807T>A | ||
| ENST00000567495.5:c.541T>A | ENSP00000456013.1:p.Ser181Thr | |
| ENST00000567963.5:c.758T>A | ENSP00000455387.1:p.Leu253His | |
| ENST00000568076.5:n.541T>A | ||
| ENST00000568224.4:c.524T>A | ENSP00000454253.1:p.Leu175His | |
| ENST00000568422.5:c.394T>A | ENSP00000455549.1:p.Ser132Thr | |
| ENST00000568452.5:n.758T>A | ||
| ENST00000568472.5:n.238T>A | ||
| ENST00000568497.5:c.*54T>A | ENSP00000456414.1:n.*54T>A | |
| ENST00000568558.5:c.299T>A | ENSP00000455603.1:p.Leu100His | |
| ENST00000569030.5:c.461-1366T>A | ENSP00000454680.1:n.461-1366T>A | |
| ENST00000569430.5:c.758T>A | ENSP00000454229.1:p.Leu253His | |
| ENST00000628023.2:c.*54T>A | ENSP00000486178.1:n.*54T>A | |
| ENST00000631023.2:c.758T>A | ENSP00000486616.1:p.Leu253His | |
| NM_000086.2:c.758T>A , LRG_689t1:c.758T>A | NP_000077.1:p.Leu253His | |
| NM_001042432.1:c.758T>A , LRG_689t2:c.758T>A | NP_001035897.1:p.Leu253His | |
| NM_001286104.1:c.686T>A | NP_001273033.1:p.Leu229His | |
| NM_001286105.1:c.458T>A | NP_001273034.1:p.Leu153His | |
| NM_001286109.1:c.524T>A | NP_001273038.1:p.Leu175His | |
| NM_001286110.1:c.596T>A | NP_001273039.1:p.Leu199His | |
| NM_001042432.2:c.758T>A MANE Select | NP_001035897.1:p.Leu253His | |
| NM_001286104.2:c.686T>A | NP_001273033.1:p.Leu229His | |
| NM_001286105.2:c.458T>A | NP_001273034.1:p.Leu153His | |
| NM_001286109.2:c.524T>A | NP_001273038.1:p.Leu175His | |
| NM_001286110.2:c.596T>A | NP_001273039.1:p.Leu199His |