Canonical Allele Identifier: CA117271
Gene: AICDA HGNC NCBI

Linked Data

ClinVar Variation Id: 5124
ClinVar RCV Id: RCV000005431
dbSNP Id: rs104894320

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605404A>G , CM000674.2:g.8605404A>G GRCh38
NC_000012.11:g.8758000A>G , CM000674.1:g.8758000A>G GRCh37
NC_000012.10:g.8649267A>G NCBI36
NG_011588.1:g.12443T>C , LRG_17:g.12443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000537228.6:c.238T>C ENSP00000445691.1:p.Trp80Arg
ENST00000543081.6:c.238T>C ENSP00000439103.2:p.Trp80Arg
ENST00000544516.6:c.157-1067T>C ENSP00000439538.2:n.157-1067T>C
ENST00000545576.2:n.347T>C
ENST00000696246.1:c.223T>C ENSP00000512504.1:p.Trp75Arg
ENST00000696271.1:n.358T>C
ENST00000696272.1:c.223T>C ENSP00000512515.1:p.Trp75Arg
ENST00000696273.1:c.271T>C ENSP00000512516.1:p.Trp91Arg
ENST00000229335.11:c.238T>C MANE Select ENSP00000229335.6:p.Trp80Arg
ENST00000229335.10:c.238T>C ENSP00000229335.6:p.Trp80Arg
ENST00000537228.5:c.238T>C ENSP00000445691.1:p.Trp80Arg
ENST00000543081.5:c.234T>C
ENST00000544516.5:c.153-1067T>C
ENST00000545512.1:c.234T>C
ENST00000545576.1:n.272T>C
NM_020661.2:c.238T>C , LRG_17t1:c.238T>C NP_065712.1:p.Trp80Arg
XM_011520772.1:c.238T>C XP_011519074.1:p.Trp80Arg
XM_011520773.1:c.238T>C XP_011519075.1:p.Trp80Arg
NM_001330343.1:c.238T>C NP_001317272.1:p.Trp80Arg
NM_020661.3:c.238T>C NP_065712.1:p.Trp80Arg
XM_011520773.2:c.238T>C XP_011519075.1:p.Trp80Arg
NM_020661.4:c.238T>C MANE Select NP_065712.1:p.Trp80Arg
NM_001330343.2:c.238T>C NP_001317272.1:p.Trp80Arg