Canonical Allele Identifier: CA2778087693

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091966T>C , CM000669.2:g.138091966T>C	GRCh38
NC_000007.13:g.137776712T>C , CM000669.1:g.137776712T>C	GRCh37
NC_000007.12:g.137427252T>C	NCBI36
NG_023342.1:g.20535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+82T>C MANE Select	ENSP00000242375.3:n.378+82T>C
ENST00000242375.7:c.378+82T>C	ENSP00000242375.3:n.378+82T>C
ENST00000411726.6:c.378+82T>C	ENSP00000402374.2:n.378+82T>C
ENST00000432161.5:c.378+82T>C	ENSP00000389197.1:n.378+82T>C
ENST00000438242.1:c.210+82T>C	ENSP00000397042.1:n.210+82T>C
ENST00000468877.2:n.288+82T>C
ENST00000470851.1:n.42+82T>C
NM_001190906.1:c.378+82T>C	NP_001177835.1:n.378+82T>C
NM_001190907.1:c.378+82T>C	NP_001177836.1:n.378+82T>C
NM_005989.3:c.378+82T>C	NP_005980.1:n.378+82T>C
NM_005989.4:c.378+82T>C MANE Select	NP_005980.1:n.378+82T>C
NM_001190906.2:c.378+82T>C	NP_001177835.1:n.378+82T>C
NM_001190907.2:c.378+82T>C	NP_001177836.1:n.378+82T>C