Canonical Allele Identifier: CA15659254
Gene: AKR1E2 HGNC NCBI

Linked Data

dbSNP Id: rs12416000
gnomAD v2: 10-4840167-G-A
gnomAD v3: 10-4797975-G-A
gnomAD v4: 10-4797975-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4797975G>A , CM000672.2:g.4797975G>A GRCh38
NC_000010.10:g.4840167G>A , CM000672.1:g.4840167G>A GRCh37
NC_000010.9:g.4830167G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000462718.7:n.52+11215G>A
ENST00000533295.5:c.-27+11215G>A ENSP00000435436.1:n.-27+11215G>A