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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72462051C>T , CM000685.2:g.72462051C>T | GRCh38 |
| NC_000023.10:g.71681901C>T , CM000685.1:g.71681901C>T | GRCh37 |
| NC_000023.9:g.71598626C>T | NCBI36 |
| NG_015851.1:g.116053G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373568.7:c.958G>A | ENSP00000362669.3:p.Gly320Arg | |
| ENST00000373573.9:c.958G>A MANE Select | ENSP00000362674.3:p.Gly320Arg | |
| ENST00000373583.6:c.880G>A | ENSP00000362685.2:p.Gly294Arg | |
| ENST00000373589.9:c.685G>A | ENSP00000362691.4:p.Gly229Arg | |
| ENST00000415409.6:c.958G>A | ENSP00000396424.2:p.Gly320Arg | |
| ENST00000436675.6:c.*213G>A | ENSP00000416489.1:n.*213G>A | |
| ENST00000470998.2:c.135G>A | ||
| ENST00000478743.2:n.1041G>A | ||
| ENST00000647594.1:c.958G>A | ENSP00000496814.1:p.Gly320Arg | |
| ENST00000647606.1:c.733G>A | ||
| ENST00000647613.1:c.*711G>A | ENSP00000497911.1:n.*711G>A | |
| ENST00000647641.1:n.1045G>A | ||
| ENST00000647654.1:c.685G>A | ENSP00000497568.1:p.Gly229Arg | |
| ENST00000647718.1:n.3473G>A | ||
| ENST00000647859.1:c.958G>A | ENSP00000497530.1:p.Gly320Arg | |
| ENST00000647886.1:c.958G>A | ENSP00000497188.1:p.Gly320Arg | |
| ENST00000647980.1:c.952G>A | ENSP00000498002.1:p.Gly318Arg | |
| ENST00000648139.1:c.658G>A | ENSP00000496818.1:p.Gly220Arg | |
| ENST00000648276.1:c.202G>A | ENSP00000497619.1:p.Gly68Arg | |
| ENST00000648298.1:c.958G>A | ENSP00000496866.1:p.Gly320Arg | |
| ENST00000648452.1:c.958G>A | ENSP00000497268.1:p.Gly320Arg | |
| ENST00000648459.1:c.355G>A | ENSP00000498072.1:p.Gly119Arg | |
| ENST00000648504.1:c.899G>A | ENSP00000497668.1:n.899G>A | |
| ENST00000648711.1:c.587G>A | ENSP00000498040.1:n.587G>A | |
| ENST00000648731.1:c.1064G>A | ||
| ENST00000648834.1:c.*38G>A | ENSP00000497764.1:n.*38G>A | |
| ENST00000648850.1:c.597G>A | ||
| ENST00000648855.1:n.882G>A | ||
| ENST00000648870.1:c.958G>A | ENSP00000497599.1:p.Gly320Arg | |
| ENST00000648922.1:c.958G>A | ENSP00000497072.1:p.Gly320Arg | |
| ENST00000648939.1:c.*38G>A | ENSP00000497442.1:n.*38G>A | |
| ENST00000649097.1:c.958G>A | ENSP00000497551.1:p.Gly320Arg | |
| ENST00000649116.1:c.*515G>A | ENSP00000497925.1:n.*515G>A | |
| ENST00000649181.1:c.*320G>A | ENSP00000498150.1:n.*320G>A | |
| ENST00000649242.1:c.*643G>A | ENSP00000497943.1:n.*643G>A | |
| ENST00000649274.1:c.896G>A | ENSP00000497032.1:n.896G>A | |
| ENST00000649518.1:c.*562G>A | ENSP00000498169.1:n.*562G>A | |
| ENST00000649543.1:c.*562G>A | ENSP00000496826.1:n.*562G>A | |
| ENST00000649752.1:c.685G>A | ENSP00000497267.1:p.Gly229Arg | |
| ENST00000650076.1:c.211+26882G>A | ||
| ENST00000650471.1:c.*402G>A | ENSP00000498027.1:n.*402G>A | |
| ENST00000650604.1:c.385G>A | ENSP00000497105.1:p.Gly129Arg | |
| ENST00000373568.6:c.685G>A | ENSP00000362669.2:p.Gly229Arg | |
| ENST00000373573.7:c.958G>A | ENSP00000362674.3:p.Gly320Arg | |
| ENST00000373583.5:c.164+110006G>A | ENSP00000362685.1:n.164+110006G>A | |
| ENST00000373589.8:c.685G>A | ENSP00000362691.4:p.Gly229Arg | |
| ENST00000415409.5:c.880G>A | ENSP00000396424.1:p.Gly294Arg | |
| ENST00000436675.5:c.*213G>A | ENSP00000416489.1:n.*213G>A | |
| ENST00000470998.1:n.131G>A | ||
| NM_001166418.1:c.685G>A | NP_001159890.1:p.Gly229Arg | |
| NM_018486.2:c.958G>A | NP_060956.1:p.Gly320Arg | |
| NR_051952.1:n.1158G>A | ||
| XM_011530986.1:c.958G>A | XP_011529288.1:p.Gly320Arg | |
| XM_011530987.1:c.958G>A | XP_011529289.1:p.Gly320Arg | |
| XM_011530988.1:c.958G>A | XP_011529290.1:p.Gly320Arg | |
| XR_938402.1:n.1044G>A | ||
| XM_011530986.3:c.958G>A | XP_011529288.3:p.Gly320Arg | |
| XM_017029640.2:c.880G>A | XP_016885129.2:p.Gly294Arg | |
| XM_017029641.2:c.880G>A | XP_016885130.2:p.Gly294Arg | |
| XM_017029642.1:c.799G>A | XP_016885131.1:p.Gly267Arg | |
| XM_017029643.2:c.772G>A | XP_016885132.1:p.Gly258Arg | |
| XM_017029644.2:c.721G>A | XP_016885133.1:p.Gly241Arg | |
| XM_017029645.2:c.772G>A | XP_016885134.1:p.Gly258Arg | |
| XM_017029646.1:c.571G>A | XP_016885135.1:p.Gly191Arg | |
| XM_024452405.1:c.373G>A | XP_024308173.1:p.Gly125Arg | |
| XR_001755711.2:n.1044G>A | ||
| XR_002958779.1:n.1044G>A | ||
| XR_002958780.1:n.1048G>A | ||
| XR_002958781.1:n.1048G>A | ||
| XR_002958782.1:n.3217G>A | ||
| XR_002958783.1:n.1024G>A | ||
| XR_938402.3:n.1044G>A | ||
| NM_018486.3:c.958G>A MANE Select | NP_060956.1:p.Gly320Arg | |
| NM_001166418.2:c.685G>A | NP_001159890.1:p.Gly229Arg | |
| NR_051952.2:n.898G>A |