Canonical Allele Identifier: CA373511823
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396557T>C , CM000671.2:g.38396557T>C GRCh38
NC_000009.11:g.38396554T>C , CM000671.1:g.38396554T>C GRCh37
NC_000009.10:g.38386554T>C NCBI36
NG_012253.1:g.8853T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.809T>C MANE Select ENSP00000366927.3:p.Ile270Thr
ENST00000377698.3:c.809T>C ENSP00000366927.3:p.Ile270Thr
NM_000692.4:c.809T>C NP_000683.3:p.Ile270Thr
XM_011517802.1:c.809T>C XP_011516104.1:p.Ile270Thr
XM_011517802.2:c.809T>C XP_011516104.1:p.Ile270Thr
NM_000692.5:c.809T>C MANE Select NP_000683.3:p.Ile270Thr