Canonical Allele Identifier: CA369359399

Gene: AKR1D1

Linked Data

• dbSNP Id: rs1243534733
• gnomAD v3: 7-138091870-C-T
• gnomAD v4: 7-138091870-C-T
• MyVariant Identifiers: chr7:g.137776616C>T (hg19) ; chr7:g.138091870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091870C>T , CM000669.2:g.138091870C>T	GRCh38
NC_000007.13:g.137776616C>T , CM000669.1:g.137776616C>T	GRCh37
NC_000007.12:g.137427156C>T	NCBI36
NG_023342.1:g.20439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.364C>T MANE Select	ENSP00000242375.3:p.Pro122Ser
ENST00000242375.7:c.364C>T	ENSP00000242375.3:p.Pro122Ser
ENST00000411726.6:c.364C>T	ENSP00000402374.2:p.Pro122Ser
ENST00000432161.5:c.364C>T	ENSP00000389197.1:p.Pro122Ser
ENST00000438242.1:c.196C>T	ENSP00000397042.1:p.Pro66Ser
ENST00000468877.2:n.274C>T
ENST00000470851.1:n.28C>T
NM_001190906.1:c.364C>T	NP_001177835.1:p.Pro122Ser
NM_001190907.1:c.364C>T	NP_001177836.1:p.Pro122Ser
NM_005989.3:c.364C>T	NP_005980.1:p.Pro122Ser
NM_005989.4:c.364C>T MANE Select	NP_005980.1:p.Pro122Ser
NM_001190906.2:c.364C>T	NP_001177835.1:p.Pro122Ser
NM_001190907.2:c.364C>T	NP_001177836.1:p.Pro122Ser