Canonical Allele Identifier: CA383817363

Gene: AICDA

Linked Data

• dbSNP Id: rs1431358994
• gnomAD v2: 12-8757402-C-T
• gnomAD v4: 12-8604806-C-T
• MyVariant Identifiers: chr12:g.8757402C>T (hg19) ; chr12:g.8604806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604806C>T , CM000674.2:g.8604806C>T	GRCh38
NC_000012.11:g.8757402C>T , CM000674.1:g.8757402C>T	GRCh37
NC_000012.10:g.8648669C>T	NCBI36
NG_011588.1:g.13041G>A , LRG_17:g.13041G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.513+1G>A	ENSP00000445691.1:n.513+1G>A
ENST00000543081.6:c.427+409G>A	ENSP00000439103.2:n.427+409G>A
ENST00000544516.6:c.157-469G>A	ENSP00000439538.2:n.157-469G>A
ENST00000545576.2:n.944+1G>A
ENST00000696246.1:c.498+1G>A	ENSP00000512504.1:n.498+1G>A
ENST00000696271.1:n.955+1G>A
ENST00000696272.1:c.528+1G>A	ENSP00000512515.1:n.528+1G>A
ENST00000696273.1:c.576+1G>A	ENSP00000512516.1:n.576+1G>A
ENST00000229335.11:c.543+1G>A MANE Select	ENSP00000229335.6:n.543+1G>A
ENST00000229335.10:c.543+1G>A	ENSP00000229335.6:n.543+1G>A
ENST00000537228.5:c.513+1G>A	ENSP00000445691.1:n.513+1G>A
ENST00000543081.5:c.423+409G>A
ENST00000544516.5:c.153-469G>A
ENST00000545512.1:c.539+1G>A
ENST00000545576.1:n.869+1G>A
NM_020661.2:c.543+1G>A , LRG_17t1:c.543+1G>A	NP_065712.1:n.543+1G>A
XM_011520772.1:c.513+1G>A	XP_011519074.1:n.513+1G>A
XM_011520773.1:c.427+409G>A	XP_011519075.1:n.427+409G>A
NM_001330343.1:c.513+1G>A	NP_001317272.1:n.513+1G>A
NM_020661.3:c.543+1G>A	NP_065712.1:n.543+1G>A
XM_011520773.2:c.427+409G>A	XP_011519075.1:n.427+409G>A
NM_020661.4:c.543+1G>A MANE Select	NP_065712.1:n.543+1G>A
NM_001330343.2:c.513+1G>A	NP_001317272.1:n.513+1G>A