Canonical Allele Identifier: CA918141703

Gene: AKR1D1

Linked Data

• dbSNP Id: rs1562933025
• gnomAD v4: 7-138091855-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091856dup , CM000669.2:g.138091856dup	GRCh38
NC_000007.13:g.137776602dup , CM000669.1:g.137776602dup	GRCh37
NC_000007.12:g.137427142dup	NCBI36
NG_023342.1:g.20425dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.350dup MANE Select	ENSP00000242375.3:p.Tyr117Ter
ENST00000242375.7:c.350dup	ENSP00000242375.3:p.Tyr117Ter
ENST00000411726.6:c.350dup	ENSP00000402374.2:p.Tyr117Ter
ENST00000432161.5:c.350dup	ENSP00000389197.1:p.Tyr117Ter
ENST00000438242.1:c.182dup	ENSP00000397042.1:p.Tyr61Ter
ENST00000468877.2:n.260dup
ENST00000470851.1:n.14dup
NM_001190906.1:c.350dup	NP_001177835.1:p.Tyr117Ter
NM_001190907.1:c.350dup	NP_001177836.1:p.Tyr117Ter
NM_005989.3:c.350dup	NP_005980.1:p.Tyr117Ter
NM_005989.4:c.350dup MANE Select	NP_005980.1:p.Tyr117Ter
NM_001190906.2:c.350dup	NP_001177835.1:p.Tyr117Ter
NM_001190907.2:c.350dup	NP_001177836.1:p.Tyr117Ter