Canonical Allele Identifier: CA373510520
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396334C>T , CM000671.2:g.38396334C>T GRCh38
NC_000009.11:g.38396331C>T , CM000671.1:g.38396331C>T GRCh37
NC_000009.10:g.38386331C>T NCBI36
NG_012253.1:g.8630C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.586C>T MANE Select ENSP00000366927.3:p.Leu196Phe
ENST00000377698.3:c.586C>T ENSP00000366927.3:p.Leu196Phe
NM_000692.4:c.586C>T NP_000683.3:p.Leu196Phe
XM_011517802.1:c.586C>T XP_011516104.1:p.Leu196Phe
XM_011517802.2:c.586C>T XP_011516104.1:p.Leu196Phe
NM_000692.5:c.586C>T MANE Select NP_000683.3:p.Leu196Phe