Canonical Allele Identifier: CA192998175
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1054675832
MyVariant Identifiers: chr9:g.38396587G>C (hg19) chr9:g.38396590G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396590G>C , CM000671.2:g.38396590G>C GRCh38
NC_000009.11:g.38396587G>C , CM000671.1:g.38396587G>C GRCh37
NC_000009.10:g.38386587G>C NCBI36
NG_012253.1:g.8886G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.842G>C MANE Select ENSP00000366927.3:p.Arg281Thr
ENST00000377698.3:c.842G>C ENSP00000366927.3:p.Arg281Thr
NM_000692.4:c.842G>C NP_000683.3:p.Arg281Thr
XM_011517802.1:c.842G>C XP_011516104.1:p.Arg281Thr
XM_011517802.2:c.842G>C XP_011516104.1:p.Arg281Thr
NM_000692.5:c.842G>C MANE Select NP_000683.3:p.Arg281Thr
Search 100 bp 5'
Search 100 bp 3'