Canonical Allele Identifier: CA1847333145
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs554947716

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396779dup , CM000671.2:g.38396779dup GRCh38
NC_000009.11:g.38396776dup , CM000671.1:g.38396776dup GRCh37
NC_000009.10:g.38386776dup NCBI36
NG_012253.1:g.9075dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1031dup MANE Select ENSP00000366927.3:p.Gln345AlafsTer9
ENST00000377698.3:c.1031dup ENSP00000366927.3:p.Gln345AlafsTer9
NM_000692.4:c.1031dup NP_000683.3:p.Gln345AlafsTer9
XM_011517802.1:c.1031dup XP_011516104.1:p.Gln345AlafsTer9
XM_011517802.2:c.1031dup XP_011516104.1:p.Gln345AlafsTer9
NM_000692.5:c.1031dup MANE Select NP_000683.3:p.Gln345AlafsTer9