Canonical Allele Identifier: CA192997677
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs796888788

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396326dup , CM000671.2:g.38396326dup GRCh38
NC_000009.11:g.38396323dup , CM000671.1:g.38396323dup GRCh37
NC_000009.10:g.38386323dup NCBI36
NG_012253.1:g.8622dup

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.578dup MANE Select ENSP00000366927.3:p.Trp194LeufsTer?
ENST00000377698.3:c.578dup ENSP00000366927.3:p.Trp194LeufsTer?
NM_000692.4:c.578dup NP_000683.3:p.Trp194LeufsTer?
XM_011517802.1:c.578dup XP_011516104.1:p.Trp194LeufsTer?
XM_011517802.2:c.578dup XP_011516104.1:p.Trp194LeufsTer?
NM_000692.5:c.578dup MANE Select NP_000683.3:p.Trp194LeufsTer?