Canonical Allele Identifier: CA369364406

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138116621T>C , CM000669.2:g.138116621T>C	GRCh38
NC_000007.13:g.137801367T>C , CM000669.1:g.137801367T>C	GRCh37
NC_000007.12:g.137451907T>C	NCBI36
NG_023342.1:g.45190T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005989.4:c.940T>C MANE Select	NP_005980.1:p.Trp314Arg
ENST00000242375.8:c.940T>C MANE Select	ENSP00000242375.3:p.Trp314Arg
NM_001190906.1:c.817T>C	NP_001177835.1:p.Trp273Arg
NM_001190906.2:c.817T>C	NP_001177835.1:p.Trp273Arg
NM_001190907.1:c.857T>C	NP_001177836.1:p.Val286Ala
NM_001190907.2:c.857T>C	NP_001177836.1:p.Val286Ala
NM_005989.3:c.940T>C	NP_005980.1:p.Trp314Arg
ENST00000242375.7:c.940T>C	ENSP00000242375.3:p.Trp314Arg
ENST00000411726.6:c.817T>C	ENSP00000402374.2:p.Trp273Arg
ENST00000432161.5:c.857T>C	ENSP00000389197.1:p.Val286Ala
ENST00000468877.2:n.963T>C