Canonical Allele Identifier: CA465127498
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1385558449
gnomAD v2: 9-38396601-C-T
gnomAD v4: 9-38396604-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396604C>T , CM000671.2:g.38396604C>T GRCh38
NC_000009.11:g.38396601C>T , CM000671.1:g.38396601C>T GRCh37
NC_000009.10:g.38386601C>T NCBI36
NG_012253.1:g.8900C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.856C>T MANE Select ENSP00000366927.3:p.Leu286=
ENST00000377698.3:c.856C>T ENSP00000366927.3:p.Leu286=
NM_000692.4:c.856C>T NP_000683.3:p.Leu286=
XM_011517802.1:c.856C>T XP_011516104.1:p.Leu286=
XM_011517802.2:c.856C>T XP_011516104.1:p.Leu286=
NM_000692.5:c.856C>T MANE Select NP_000683.3:p.Leu286=