Canonical Allele Identifier: CA4502666

Gene: AKR1D1

Linked Data

• dbSNP Id: rs748613860
• ExAC: 7:137776646 C / T
• gnomAD v4: 7-138091900-C-T
• MyVariant Identifiers: chr7:g.137776646C>T (hg19) ; chr7:g.138091900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091900C>T , CM000669.2:g.138091900C>T	GRCh38
NC_000007.13:g.137776646C>T , CM000669.1:g.137776646C>T	GRCh37
NC_000007.12:g.137427186C>T	NCBI36
NG_023342.1:g.20469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+16C>T MANE Select	ENSP00000242375.3:n.378+16C>T
ENST00000242375.7:c.378+16C>T	ENSP00000242375.3:n.378+16C>T
ENST00000411726.6:c.378+16C>T	ENSP00000402374.2:n.378+16C>T
ENST00000432161.5:c.378+16C>T	ENSP00000389197.1:n.378+16C>T
ENST00000438242.1:c.210+16C>T	ENSP00000397042.1:n.210+16C>T
ENST00000468877.2:n.288+16C>T
ENST00000470851.1:n.42+16C>T
NM_001190906.1:c.378+16C>T	NP_001177835.1:n.378+16C>T
NM_001190907.1:c.378+16C>T	NP_001177836.1:n.378+16C>T
NM_005989.3:c.378+16C>T	NP_005980.1:n.378+16C>T
NM_005989.4:c.378+16C>T MANE Select	NP_005980.1:n.378+16C>T
NM_001190906.2:c.378+16C>T	NP_001177835.1:n.378+16C>T
NM_001190907.2:c.378+16C>T	NP_001177836.1:n.378+16C>T