Canonical Allele Identifier: CA232301103

Gene: AICDA

Linked Data

• ClinVar Variation Id: 863582
• ClinVar RCV Id: RCV001070577
• dbSNP Id: rs886923939
• gnomAD v2: 12-8759546-C-T
• gnomAD v3: 12-8606950-C-T
• gnomAD v4: 12-8606950-C-T
• MyVariant Identifiers: chr12:g.8759546C>T (hg19) ; chr12:g.8606950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8606950C>T , CM000674.2:g.8606950C>T	GRCh38
NC_000012.11:g.8759546C>T , CM000674.1:g.8759546C>T	GRCh37
NC_000012.10:g.8650813C>T	NCBI36
NG_011588.1:g.10897G>A , LRG_17:g.10897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.71G>A	ENSP00000445691.1:p.Arg24Gln
ENST00000543081.6:c.71G>A	ENSP00000439103.2:p.Arg24Gln
ENST00000544516.6:c.71G>A	ENSP00000439538.2:p.Arg24Gln
ENST00000545576.2:n.180G>A
ENST00000696246.1:c.56G>A	ENSP00000512504.1:p.Arg19Gln
ENST00000696271.1:n.191G>A
ENST00000696272.1:c.56G>A	ENSP00000512515.1:p.Arg19Gln
ENST00000696273.1:c.104G>A	ENSP00000512516.1:p.Arg35Gln
ENST00000229335.11:c.71G>A MANE Select	ENSP00000229335.6:p.Arg24Gln
ENST00000229335.10:c.71G>A	ENSP00000229335.6:p.Arg24Gln
ENST00000537228.5:c.71G>A	ENSP00000445691.1:p.Arg24Gln
ENST00000543081.5:c.67G>A
ENST00000544516.5:c.67G>A
ENST00000545512.1:c.67G>A
ENST00000545576.1:n.105G>A
NM_020661.2:c.71G>A , LRG_17t1:c.71G>A	NP_065712.1:p.Arg24Gln
XM_011520772.1:c.71G>A	XP_011519074.1:p.Arg24Gln
XM_011520773.1:c.71G>A	XP_011519075.1:p.Arg24Gln
NM_001330343.1:c.71G>A	NP_001317272.1:p.Arg24Gln
NM_020661.3:c.71G>A	NP_065712.1:p.Arg24Gln
XM_011520773.2:c.71G>A	XP_011519075.1:p.Arg24Gln
NM_020661.4:c.71G>A MANE Select	NP_065712.1:p.Arg24Gln
NM_001330343.2:c.71G>A	NP_001317272.1:p.Arg24Gln