Canonical Allele Identifier: CA373512536
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1395841449
gnomAD v2: 9-38396691-G-T
gnomAD v3: 9-38396694-G-T
gnomAD v4: 9-38396694-G-T
MyVariant Identifiers: chr9:g.38396691G>T (hg19) chr9:g.38396694G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396694G>T , CM000671.2:g.38396694G>T GRCh38
NC_000009.11:g.38396691G>T , CM000671.1:g.38396691G>T GRCh37
NC_000009.10:g.38386691G>T NCBI36
NG_012253.1:g.8990G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.946G>T MANE Select ENSP00000366927.3:p.Gly316Cys
ENST00000377698.3:c.946G>T ENSP00000366927.3:p.Gly316Cys
NM_000692.4:c.946G>T NP_000683.3:p.Gly316Cys
XM_011517802.1:c.946G>T XP_011516104.1:p.Gly316Cys
XM_011517802.2:c.946G>T XP_011516104.1:p.Gly316Cys
NM_000692.5:c.946G>T MANE Select NP_000683.3:p.Gly316Cys
Search 100 bp 5'
Search 100 bp 3'