Canonical Allele Identifier: CA373511494
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1821288872
gnomAD v3: 9-38396473-G-T
gnomAD v4: 9-38396473-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396473G>T , CM000671.2:g.38396473G>T GRCh38
NC_000009.11:g.38396470G>T , CM000671.1:g.38396470G>T GRCh37
NC_000009.10:g.38386470G>T NCBI36
NG_012253.1:g.8769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.725G>T MANE Select ENSP00000366927.3:p.Gly242Val
ENST00000377698.3:c.725G>T ENSP00000366927.3:p.Gly242Val
NM_000692.4:c.725G>T NP_000683.3:p.Gly242Val
XM_011517802.1:c.725G>T XP_011516104.1:p.Gly242Val
XM_011517802.2:c.725G>T XP_011516104.1:p.Gly242Val
NM_000692.5:c.725G>T MANE Select NP_000683.3:p.Gly242Val