Canonical Allele Identifier: CA167077324
Community Standard Title: NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val)
Gene: AKR1D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138088749A>T , CM000669.2:g.138088749A>T GRCh38
NC_000007.13:g.137773495A>T , CM000669.1:g.137773495A>T GRCh37
NC_000007.12:g.137424035A>T NCBI36
NG_023342.1:g.17318A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005989.4:c.242A>T MANE Select NP_005980.1:p.Asp81Val
ENST00000242375.8:c.242A>T MANE Select ENSP00000242375.3:p.Asp81Val
NM_001190906.1:c.242A>T NP_001177835.1:p.Asp81Val
NM_001190906.2:c.242A>T NP_001177835.1:p.Asp81Val
NM_001190907.1:c.242A>T NP_001177836.1:p.Asp81Val
NM_001190907.2:c.242A>T NP_001177836.1:p.Asp81Val
NM_005989.3:c.242A>T NP_005980.1:p.Asp81Val
ENST00000242375.7:c.242A>T ENSP00000242375.3:p.Asp81Val
ENST00000411726.6:c.242A>T ENSP00000402374.2:p.Asp81Val
ENST00000432161.5:c.242A>T ENSP00000389197.1:p.Asp81Val
ENST00000438242.1:c.94-3019A>T ENSP00000397042.1:n.94-3019A>T
ENST00000468877.2:n.222-3069A>T