Canonical Allele Identifier: CA373511757
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396539-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396539C>T , CM000671.2:g.38396539C>T GRCh38
NC_000009.11:g.38396536C>T , CM000671.1:g.38396536C>T GRCh37
NC_000009.10:g.38386536C>T NCBI36
NG_012253.1:g.8835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.791C>T MANE Select ENSP00000366927.3:p.Thr264Ile
ENST00000377698.3:c.791C>T ENSP00000366927.3:p.Thr264Ile
NM_000692.4:c.791C>T NP_000683.3:p.Thr264Ile
XM_011517802.1:c.791C>T XP_011516104.1:p.Thr264Ile
XM_011517802.2:c.791C>T XP_011516104.1:p.Thr264Ile
NM_000692.5:c.791C>T MANE Select NP_000683.3:p.Thr264Ile