Canonical Allele Identifier: CA373511618
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs4878199

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396505G>C , CM000671.2:g.38396505G>C GRCh38
NC_000009.11:g.38396502G>C , CM000671.1:g.38396502G>C GRCh37
NC_000009.10:g.38386502G>C NCBI36
NG_012253.1:g.8801G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.757G>C MANE Select ENSP00000366927.3:p.Val253Leu
ENST00000377698.3:c.757G>C ENSP00000366927.3:p.Val253Leu
NM_000692.4:c.757G>C NP_000683.3:p.Val253Leu
XM_011517802.1:c.757G>C XP_011516104.1:p.Val253Leu
XM_011517802.2:c.757G>C XP_011516104.1:p.Val253Leu
NM_000692.5:c.757G>C MANE Select NP_000683.3:p.Val253Leu