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_000006.12:g.152215074T= , CM000668.2:g.152215074T= | GRCh38 |
| NC_000006.11:g.152536209T= , CM000668.1:g.152536209T= | GRCh37 |
| NC_000006.10:g.152577902T= | NCBI36 |
| NG_012855.1:g.427326A= | |
| NG_012855.2:g.427326A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367255.10:c.22192-14A= MANE Select | ENSP00000356224.5:n.22192-14A= | |
| ENST00000423061.6:c.21979-14A= | ENSP00000396024.1:n.21979-14A= | |
| ENST00000341594.9:c.20977-14A= | ENSP00000341887.6:n.20977-14A= | |
| ENST00000367251.7:c.958-14A= | ENSP00000356220.3:n.958-14A= | |
| ENST00000367255.9:c.22192-14A= | ENSP00000356224.5:n.22192-14A= | |
| ENST00000367256.9:n.5884-14A= | ||
| ENST00000367257.8:c.130-14A= | ENSP00000356226.4:n.130-14A= | |
| ENST00000409694.6:n.5776-14A= | ||
| ENST00000423061.5:c.21979-14A= | ENSP00000396024.1:n.21979-14A= | |
| NM_033071.3:c.21979-14A= | NP_149062.1:n.21979-14A= | |
| NM_182961.3:c.22192-14A= | NP_892006.3:n.22192-14A= | |
| XM_006715407.1:c.22228-14A= | XP_006715470.1:n.22228-14A= | |
| XM_006715408.1:c.22216-14A= | XP_006715471.1:n.22216-14A= | |
| XM_006715409.1:c.22207-14A= | XP_006715472.1:n.22207-14A= | |
| XM_006715410.1:c.22228-14A= | XP_006715473.1:n.22228-14A= | |
| XM_006715411.1:c.22177-14A= | XP_006715474.1:n.22177-14A= | |
| XM_006715412.1:c.22213-14A= | XP_006715475.1:n.22213-14A= | |
| XM_006715413.1:c.22228-14A= | XP_006715476.1:n.22228-14A= | |
| XM_006715414.1:c.22156-14A= | XP_006715477.1:n.22156-14A= | |
| XM_006715415.1:c.22228-14A= | XP_006715478.1:n.22228-14A= | |
| XM_006715416.1:c.22213-14A= | XP_006715479.1:n.22213-14A= | |
| XM_006715417.1:c.22087-14A= | XP_006715480.1:n.22087-14A= | |
| XM_006715420.1:c.22075-14A= | XP_006715483.1:n.22075-14A= | |
| XM_006715421.1:c.22072-14A= | XP_006715484.1:n.22072-14A= | |
| XM_006715422.1:c.22069-14A= | XP_006715485.1:n.22069-14A= | |
| XM_006715423.1:c.22228-14A= | XP_006715486.1:n.22228-14A= | |
| XM_006715424.1:c.22228-14A= | XP_006715487.1:n.22228-14A= | |
| XM_006715425.1:c.22228-14A= | XP_006715488.1:n.22228-14A= | |
| XM_011535641.1:c.22225-14A= | XP_011533943.1:n.22225-14A= | |
| XM_011535642.1:c.22213-14A= | XP_011533944.1:n.22213-14A= | |
| XM_011535643.1:c.22063-14A= | XP_011533945.1:n.22063-14A= | |
| XM_011535644.1:c.20503-14A= | XP_011533946.1:n.20503-14A= | |
| XM_011535645.1:c.19996-14A= | XP_011533947.1:n.19996-14A= | |
| XM_011535647.1:c.15463-14A= | XP_011533949.1:n.15463-14A= | |
| XM_006715408.2:c.22216-14A= | XP_006715471.1:n.22216-14A= | |
| XM_006715410.2:c.22228-14A= | XP_006715473.1:n.22228-14A= | |
| XM_006715412.2:c.22213-14A= | XP_006715475.1:n.22213-14A= | |
| XM_006715413.2:c.22228-14A= | XP_006715476.1:n.22228-14A= | |
| XM_006715415.2:c.22228-14A= | XP_006715478.1:n.22228-14A= | |
| XM_006715416.2:c.22213-14A= | XP_006715479.1:n.22213-14A= | |
| XM_006715417.2:c.22087-14A= | XP_006715480.1:n.22087-14A= | |
| XM_006715420.2:c.22075-14A= | XP_006715483.1:n.22075-14A= | |
| XM_006715421.2:c.22072-14A= | XP_006715484.1:n.22072-14A= | |
| XM_006715423.2:c.22228-14A= | XP_006715486.1:n.22228-14A= | |
| XM_006715424.2:c.22228-14A= | XP_006715487.1:n.22228-14A= | |
| XM_006715425.2:c.22228-14A= | XP_006715488.1:n.22228-14A= | |
| XM_011535641.2:c.22225-14A= | XP_011533943.1:n.22225-14A= | |
| XM_011535642.2:c.22213-14A= | XP_011533944.1:n.22213-14A= | |
| XM_011535645.2:c.19996-14A= | XP_011533947.1:n.19996-14A= | |
| XM_017010608.1:c.22228-14A= | XP_016866097.1:n.22228-14A= | |
| XM_017010609.1:c.22228-14A= | XP_016866098.1:n.22228-14A= | |
| XM_017010610.1:c.22207-14A= | XP_016866099.1:n.22207-14A= | |
| XM_017010611.2:c.22201-14A= | XP_016866100.1:n.22201-14A= | |
| XM_017010612.1:c.22150-14A= | XP_016866101.1:n.22150-14A= | |
| XM_017010613.1:c.22225-14A= | XP_016866102.1:n.22225-14A= | |
| XM_017010614.1:c.22072-14A= | XP_016866103.1:n.22072-14A= | |
| XM_017010615.1:c.22072-14A= | XP_016866104.1:n.22072-14A= | |
| XM_017010616.1:c.22228-14A= | XP_016866105.1:n.22228-14A= | |
| XM_017010617.1:c.22225-14A= | XP_016866106.1:n.22225-14A= | |
| XM_017010618.1:c.22213-14A= | XP_016866107.1:n.22213-14A= | |
| XM_017010619.1:c.20503-14A= | XP_016866108.1:n.20503-14A= | |
| NM_182961.4:c.22192-14A= MANE Select | NP_892006.3:n.22192-14A= | |
| NM_033071.5:c.21979-14A= | NP_149062.2:n.21979-14A= |