Canonical Allele Identifier: CA373513982
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396998T>G , CM000671.2:g.38396998T>G GRCh38
NC_000009.11:g.38396995T>G , CM000671.1:g.38396995T>G GRCh37
NC_000009.10:g.38386995T>G NCBI36
NG_012253.1:g.9294T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1250T>G MANE Select ENSP00000366927.3:p.Ile417Ser
ENST00000377698.3:c.1250T>G ENSP00000366927.3:p.Ile417Ser
NM_000692.4:c.1250T>G NP_000683.3:p.Ile417Ser
XM_011517802.1:c.1250T>G XP_011516104.1:p.Ile417Ser
XM_011517802.2:c.1250T>G XP_011516104.1:p.Ile417Ser
NM_000692.5:c.1250T>G MANE Select NP_000683.3:p.Ile417Ser