Canonical Allele Identifier: CA369359213

Gene: AKR1D1

Linked Data

• dbSNP Id: rs1288971503
• gnomAD v2: 7-137776531-T-G
• gnomAD v4: 7-138091785-T-G
• MyVariant Identifiers: chr7:g.137776531T>G (hg19) ; chr7:g.138091785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091785T>G , CM000669.2:g.138091785T>G	GRCh38
NC_000007.13:g.137776531T>G , CM000669.1:g.137776531T>G	GRCh37
NC_000007.12:g.137427071T>G	NCBI36
NG_023342.1:g.20354T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.279T>G MANE Select	ENSP00000242375.3:p.His93Gln
ENST00000242375.7:c.279T>G	ENSP00000242375.3:p.His93Gln
ENST00000411726.6:c.279T>G	ENSP00000402374.2:p.His93Gln
ENST00000432161.5:c.279T>G	ENSP00000389197.1:p.His93Gln
ENST00000438242.1:c.111T>G	ENSP00000397042.1:p.His37Gln
ENST00000468877.2:n.222-33T>G
NM_001190906.1:c.279T>G	NP_001177835.1:p.His93Gln
NM_001190907.1:c.279T>G	NP_001177836.1:p.His93Gln
NM_005989.3:c.279T>G	NP_005980.1:p.His93Gln
NM_005989.4:c.279T>G MANE Select	NP_005980.1:p.His93Gln
NM_001190906.2:c.279T>G	NP_001177835.1:p.His93Gln
NM_001190907.2:c.279T>G	NP_001177836.1:p.His93Gln