Canonical Allele Identifier: CA383817407

Gene: AICDA

Linked Data

• gnomAD v4: 12-8604817-C-T
• MyVariant Identifiers: chr12:g.8757413C>T (hg19) ; chr12:g.8604817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604817C>T , CM000674.2:g.8604817C>T	GRCh38
NC_000012.11:g.8757413C>T , CM000674.1:g.8757413C>T	GRCh37
NC_000012.10:g.8648680C>T	NCBI36
NG_011588.1:g.13030G>A , LRG_17:g.13030G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.503G>A	ENSP00000445691.1:p.Arg168His
ENST00000543081.6:c.427+398G>A	ENSP00000439103.2:n.427+398G>A
ENST00000544516.6:c.157-480G>A	ENSP00000439538.2:n.157-480G>A
ENST00000545576.2:n.934G>A
ENST00000696246.1:c.488G>A	ENSP00000512504.1:p.Arg163His
ENST00000696271.1:n.945G>A
ENST00000696272.1:c.518G>A	ENSP00000512515.1:p.Arg173His
ENST00000696273.1:c.566G>A	ENSP00000512516.1:p.Arg189His
ENST00000229335.11:c.533G>A MANE Select	ENSP00000229335.6:p.Arg178His
ENST00000229335.10:c.533G>A	ENSP00000229335.6:p.Arg178His
ENST00000537228.5:c.503G>A	ENSP00000445691.1:p.Arg168His
ENST00000543081.5:c.423+398G>A
ENST00000544516.5:c.153-480G>A
ENST00000545512.1:c.529G>A
ENST00000545576.1:n.859G>A
NM_020661.2:c.533G>A , LRG_17t1:c.533G>A	NP_065712.1:p.Arg178His
XM_011520772.1:c.503G>A	XP_011519074.1:p.Arg168His
XM_011520773.1:c.427+398G>A	XP_011519075.1:n.427+398G>A
NM_001330343.1:c.503G>A	NP_001317272.1:p.Arg168His
NM_020661.3:c.533G>A	NP_065712.1:p.Arg178His
XM_011520773.2:c.427+398G>A	XP_011519075.1:n.427+398G>A
NM_020661.4:c.533G>A MANE Select	NP_065712.1:p.Arg178His
NM_001330343.2:c.503G>A	NP_001317272.1:p.Arg168His