Canonical Allele Identifier: CA373511357
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396439C>G , CM000671.2:g.38396439C>G GRCh38
NC_000009.11:g.38396436C>G , CM000671.1:g.38396436C>G GRCh37
NC_000009.10:g.38386436C>G NCBI36
NG_012253.1:g.8735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.691C>G MANE Select ENSP00000366927.3:p.Pro231Ala
ENST00000377698.3:c.691C>G ENSP00000366927.3:p.Pro231Ala
NM_000692.4:c.691C>G NP_000683.3:p.Pro231Ala
XM_011517802.1:c.691C>G XP_011516104.1:p.Pro231Ala
XM_011517802.2:c.691C>G XP_011516104.1:p.Pro231Ala
NM_000692.5:c.691C>G MANE Select NP_000683.3:p.Pro231Ala