Canonical Allele Identifier: CA373511565
Gene: ALDH1B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.38396490A>C (hg19) chr9:g.38396493A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396493A>C , CM000671.2:g.38396493A>C GRCh38
NC_000009.11:g.38396490A>C , CM000671.1:g.38396490A>C GRCh37
NC_000009.10:g.38386490A>C NCBI36
NG_012253.1:g.8789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.745A>C MANE Select ENSP00000366927.3:p.Ile249Leu
ENST00000377698.3:c.745A>C ENSP00000366927.3:p.Ile249Leu
NM_000692.4:c.745A>C NP_000683.3:p.Ile249Leu
XM_011517802.1:c.745A>C XP_011516104.1:p.Ile249Leu
XM_011517802.2:c.745A>C XP_011516104.1:p.Ile249Leu
NM_000692.5:c.745A>C MANE Select NP_000683.3:p.Ile249Leu
Search 100 bp 5'
Search 100 bp 3'