Canonical Allele Identifier: CA373512433
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396676-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396676G>A , CM000671.2:g.38396676G>A GRCh38
NC_000009.11:g.38396673G>A , CM000671.1:g.38396673G>A GRCh37
NC_000009.10:g.38386673G>A NCBI36
NG_012253.1:g.8972G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.928G>A MANE Select ENSP00000366927.3:p.Ala310Thr
ENST00000377698.3:c.928G>A ENSP00000366927.3:p.Ala310Thr
NM_000692.4:c.928G>A NP_000683.3:p.Ala310Thr
XM_011517802.1:c.928G>A XP_011516104.1:p.Ala310Thr
XM_011517802.2:c.928G>A XP_011516104.1:p.Ala310Thr
NM_000692.5:c.928G>A MANE Select NP_000683.3:p.Ala310Thr