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_000006.12:g.152151991T>C , CM000668.2:g.152151991T>C | GRCh38 |
| NC_000006.11:g.152473126T>C , CM000668.1:g.152473126T>C | GRCh37 |
| NC_000006.10:g.152514819T>C | NCBI36 |
| NG_012855.1:g.490409A>G | |
| NG_012855.2:g.490409A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.745A>G MANE Plus Clinical | ENSP00000346701.4:p.Lys249Glu | |
| ENST00000367255.10:c.24280A>G MANE Select | ENSP00000356224.5:p.Lys8094Glu | |
| ENST00000423061.6:c.24067A>G | ENSP00000396024.1:p.Lys8023Glu | |
| ENST00000672169.1:c.15A>G | ||
| ENST00000673173.1:c.194A>G | ||
| ENST00000673451.1:c.52A>G | ENSP00000500189.1:p.Lys18Glu | |
| ENST00000341594.9:c.23065A>G | ENSP00000341887.6:p.Lys7689Glu | |
| ENST00000347037.9:n.959A>G | ||
| ENST00000354674.4:c.745A>G | ENSP00000346701.4:p.Lys249Glu | |
| ENST00000367251.7:c.3046A>G | ENSP00000356220.3:p.Lys1016Glu | |
| ENST00000367255.9:c.24280A>G | ENSP00000356224.5:p.Lys8094Glu | |
| ENST00000367256.9:n.7972A>G | ||
| ENST00000367257.8:c.2218A>G | ENSP00000356226.4:p.Lys740Glu | |
| ENST00000409694.6:n.7864A>G | ||
| ENST00000423061.5:c.24067A>G | ENSP00000396024.1:p.Lys8023Glu | |
| ENST00000460912.6:n.825A>G | ||
| ENST00000476519.1:n.342A>G | ||
| ENST00000536990.5:n.1117A>G | ||
| ENST00000539504.5:c.745A>G | ENSP00000441052.1:p.Lys249Glu | |
| NM_033071.3:c.24067A>G | NP_149062.1:p.Lys8023Glu | |
| NM_182961.3:c.24280A>G | NP_892006.3:p.Lys8094Glu | |
| XM_006715407.1:c.24316A>G | XP_006715470.1:p.Lys8106Glu | |
| XM_006715408.1:c.24304A>G | XP_006715471.1:p.Lys8102Glu | |
| XM_006715409.1:c.24295A>G | XP_006715472.1:p.Lys8099Glu | |
| XM_006715410.1:c.24316A>G | XP_006715473.1:p.Lys8106Glu | |
| XM_006715411.1:c.24265A>G | XP_006715474.1:p.Lys8089Glu | |
| XM_006715412.1:c.24301A>G | XP_006715475.1:p.Lys8101Glu | |
| XM_006715413.1:c.24316A>G | XP_006715476.1:p.Lys8106Glu | |
| XM_006715414.1:c.24244A>G | XP_006715477.1:p.Lys8082Glu | |
| XM_006715415.1:c.24316A>G | XP_006715478.1:p.Lys8106Glu | |
| XM_006715416.1:c.24301A>G | XP_006715479.1:p.Lys8101Glu | |
| XM_006715417.1:c.24175A>G | XP_006715480.1:p.Lys8059Glu | |
| XM_006715420.1:c.24163A>G | XP_006715483.1:p.Lys8055Glu | |
| XM_006715421.1:c.24160A>G | XP_006715484.1:p.Lys8054Glu | |
| XM_006715422.1:c.24157A>G | XP_006715485.1:p.Lys8053Glu | |
| XM_006715423.1:c.24316A>G | XP_006715486.1:p.Lys8106Glu | |
| XM_006715424.1:c.24316A>G | XP_006715487.1:p.Lys8106Glu | |
| XM_006715425.1:c.24316A>G | XP_006715488.1:p.Lys8106Glu | |
| XM_011535641.1:c.24313A>G | XP_011533943.1:p.Lys8105Glu | |
| XM_011535642.1:c.24301A>G | XP_011533944.1:p.Lys8101Glu | |
| XM_011535643.1:c.24151A>G | XP_011533945.1:p.Lys8051Glu | |
| XM_011535644.1:c.22591A>G | XP_011533946.1:p.Lys7531Glu | |
| XM_011535645.1:c.22084A>G | XP_011533947.1:p.Lys7362Glu | |
| XM_011535647.1:c.17551A>G | XP_011533949.1:p.Lys5851Glu | |
| NM_001347701.1:c.886A>G | NP_001334630.1:p.Lys296Glu | |
| NM_001347702.1:c.745A>G | NP_001334631.1:p.Lys249Glu | |
| XM_006715408.2:c.24304A>G | XP_006715471.1:p.Lys8102Glu | |
| XM_006715410.2:c.24316A>G | XP_006715473.1:p.Lys8106Glu | |
| XM_006715412.2:c.24301A>G | XP_006715475.1:p.Lys8101Glu | |
| XM_006715413.2:c.24316A>G | XP_006715476.1:p.Lys8106Glu | |
| XM_006715415.2:c.24316A>G | XP_006715478.1:p.Lys8106Glu | |
| XM_006715416.2:c.24301A>G | XP_006715479.1:p.Lys8101Glu | |
| XM_006715417.2:c.24175A>G | XP_006715480.1:p.Lys8059Glu | |
| XM_006715420.2:c.24163A>G | XP_006715483.1:p.Lys8055Glu | |
| XM_006715421.2:c.24160A>G | XP_006715484.1:p.Lys8054Glu | |
| XM_006715423.2:c.24316A>G | XP_006715486.1:p.Lys8106Glu | |
| XM_006715424.2:c.24316A>G | XP_006715487.1:p.Lys8106Glu | |
| XM_006715425.2:c.24316A>G | XP_006715488.1:p.Lys8106Glu | |
| XM_011535641.2:c.24313A>G | XP_011533943.1:p.Lys8105Glu | |
| XM_011535642.2:c.24301A>G | XP_011533944.1:p.Lys8101Glu | |
| XM_011535645.2:c.22084A>G | XP_011533947.1:p.Lys7362Glu | |
| XM_017010608.1:c.24316A>G | XP_016866097.1:p.Lys8106Glu | |
| XM_017010609.1:c.24316A>G | XP_016866098.1:p.Lys8106Glu | |
| XM_017010610.1:c.24295A>G | XP_016866099.1:p.Lys8099Glu | |
| XM_017010611.2:c.24289A>G | XP_016866100.1:p.Lys8097Glu | |
| XM_017010612.1:c.24238A>G | XP_016866101.1:p.Lys8080Glu | |
| XM_017010613.1:c.24313A>G | XP_016866102.1:p.Lys8105Glu | |
| XM_017010614.1:c.24160A>G | XP_016866103.1:p.Lys8054Glu | |
| XM_017010615.1:c.24160A>G | XP_016866104.1:p.Lys8054Glu | |
| XM_017010616.1:c.24316A>G | XP_016866105.1:p.Lys8106Glu | |
| XM_017010617.1:c.24313A>G | XP_016866106.1:p.Lys8105Glu | |
| XM_017010618.1:c.24301A>G | XP_016866107.1:p.Lys8101Glu | |
| XM_017010619.1:c.22591A>G | XP_016866108.1:p.Lys7531Glu | |
| NM_182961.4:c.24280A>G MANE Select | NP_892006.3:p.Lys8094Glu | |
| NM_001347701.2:c.886A>G | NP_001334630.1:p.Lys296Glu | |
| NM_001347702.2:c.745A>G MANE Plus Clinical | NP_001334631.1:p.Lys249Glu | |
| NM_033071.5:c.24067A>G | NP_149062.2:p.Lys8023Glu |