Canonical Allele Identifier: CA383818205

Gene: AICDA

Linked Data

• ClinVar Variation Id: 1931360
• ClinVar RCV Id: RCV002631527
• dbSNP Id: rs773521793
• gnomAD v3: 12-8605214-C-T
• gnomAD v4: 12-8605214-C-T
• MyVariant Identifiers: chr12:g.8757810C>T (hg19) ; chr12:g.8605214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605214C>T , CM000674.2:g.8605214C>T	GRCh38
NC_000012.11:g.8757810C>T , CM000674.1:g.8757810C>T	GRCh37
NC_000012.10:g.8649077C>T	NCBI36
NG_011588.1:g.12633G>A , LRG_17:g.12633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.427+1G>A	ENSP00000445691.1:n.427+1G>A
ENST00000543081.6:c.427+1G>A	ENSP00000439103.2:n.427+1G>A
ENST00000544516.6:c.157-877G>A	ENSP00000439538.2:n.157-877G>A
ENST00000545576.2:n.537G>A
ENST00000696246.1:c.412+1G>A	ENSP00000512504.1:n.412+1G>A
ENST00000696271.1:n.548G>A
ENST00000696272.1:c.412+1G>A	ENSP00000512515.1:n.412+1G>A
ENST00000696273.1:c.460+1G>A	ENSP00000512516.1:n.460+1G>A
ENST00000229335.11:c.427+1G>A MANE Select	ENSP00000229335.6:n.427+1G>A
ENST00000229335.10:c.427+1G>A	ENSP00000229335.6:n.427+1G>A
ENST00000537228.5:c.427+1G>A	ENSP00000445691.1:n.427+1G>A
ENST00000543081.5:c.423+1G>A
ENST00000544516.5:c.153-877G>A
ENST00000545512.1:c.423+1G>A
ENST00000545576.1:n.462G>A
NM_020661.2:c.427+1G>A , LRG_17t1:c.427+1G>A	NP_065712.1:n.427+1G>A
XM_011520772.1:c.427+1G>A	XP_011519074.1:n.427+1G>A
XM_011520773.1:c.427+1G>A	XP_011519075.1:n.427+1G>A
NM_001330343.1:c.427+1G>A	NP_001317272.1:n.427+1G>A
NM_020661.3:c.427+1G>A	NP_065712.1:n.427+1G>A
XM_011520773.2:c.427+1G>A	XP_011519075.1:n.427+1G>A
NM_020661.4:c.427+1G>A MANE Select	NP_065712.1:n.427+1G>A
NM_001330343.2:c.427+1G>A	NP_001317272.1:n.427+1G>A