Canonical Allele Identifier: CA465127974
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396906-T-C
MyVariant Identifiers: chr9:g.38396903T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396906T>C , CM000671.2:g.38396906T>C GRCh38
NC_000009.11:g.38396903T>C , CM000671.1:g.38396903T>C GRCh37
NC_000009.10:g.38386903T>C NCBI36
NG_012253.1:g.9202T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1158T>C MANE Select ENSP00000366927.3:p.Cys386=
ENST00000377698.3:c.1158T>C ENSP00000366927.3:p.Cys386=
NM_000692.4:c.1158T>C NP_000683.3:p.Cys386=
XM_011517802.1:c.1158T>C XP_011516104.1:p.Cys386=
XM_011517802.2:c.1158T>C XP_011516104.1:p.Cys386=
NM_000692.5:c.1158T>C MANE Select NP_000683.3:p.Cys386=
Search 100 bp 5'
Search 100 bp 3'