Canonical Allele Identifier: CA373512567
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1182835061
gnomAD v4: 9-38396699-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396699G>T , CM000671.2:g.38396699G>T GRCh38
NC_000009.11:g.38396696G>T , CM000671.1:g.38396696G>T GRCh37
NC_000009.10:g.38386696G>T NCBI36
NG_012253.1:g.8995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.951G>T MANE Select ENSP00000366927.3:p.Gln317His
ENST00000377698.3:c.951G>T ENSP00000366927.3:p.Gln317His
NM_000692.4:c.951G>T NP_000683.3:p.Gln317His
XM_011517802.1:c.951G>T XP_011516104.1:p.Gln317His
XM_011517802.2:c.951G>T XP_011516104.1:p.Gln317His
NM_000692.5:c.951G>T MANE Select NP_000683.3:p.Gln317His