Canonical Allele Identifier: CA373512775
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396749A>C , CM000671.2:g.38396749A>C GRCh38
NC_000009.11:g.38396746A>C , CM000671.1:g.38396746A>C GRCh37
NC_000009.10:g.38386746A>C NCBI36
NG_012253.1:g.9045A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1001A>C MANE Select ENSP00000366927.3:p.Glu334Ala
ENST00000377698.3:c.1001A>C ENSP00000366927.3:p.Glu334Ala
NM_000692.4:c.1001A>C NP_000683.3:p.Glu334Ala
XM_011517802.1:c.1001A>C XP_011516104.1:p.Glu334Ala
XM_011517802.2:c.1001A>C XP_011516104.1:p.Glu334Ala
NM_000692.5:c.1001A>C MANE Select NP_000683.3:p.Glu334Ala