Canonical Allele Identifier: CA465127479
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1009200055
gnomAD v3: 9-38396681-G-C
gnomAD v4: 9-38396681-G-C
MyVariant Identifiers: chr9:g.38396678G>C (hg19) chr9:g.38396681G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396681G>C , CM000671.2:g.38396681G>C GRCh38
NC_000009.11:g.38396678G>C , CM000671.1:g.38396678G>C GRCh37
NC_000009.10:g.38386678G>C NCBI36
NG_012253.1:g.8977G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.933G>C MANE Select ENSP00000366927.3:p.Leu311=
ENST00000377698.3:c.933G>C ENSP00000366927.3:p.Leu311=
NM_000692.4:c.933G>C NP_000683.3:p.Leu311=
XM_011517802.1:c.933G>C XP_011516104.1:p.Leu311=
XM_011517802.2:c.933G>C XP_011516104.1:p.Leu311=
NM_000692.5:c.933G>C MANE Select NP_000683.3:p.Leu311=
Search 100 bp 5'
Search 100 bp 3'