Canonical Allele Identifier: CA383817417

Gene: AICDA

Linked Data

• dbSNP Id: rs1941250684
• gnomAD v4: 12-8604820-C-T
• COSMIC: COSM1994671
• MyVariant Identifiers: chr12:g.8757416C>T (hg19) ; chr12:g.8604820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604820C>T , CM000674.2:g.8604820C>T	GRCh38
NC_000012.11:g.8757416C>T , CM000674.1:g.8757416C>T	GRCh37
NC_000012.10:g.8648683C>T	NCBI36
NG_011588.1:g.13027G>A , LRG_17:g.13027G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.500G>A	ENSP00000445691.1:p.Arg167Gln
ENST00000543081.6:c.427+395G>A	ENSP00000439103.2:n.427+395G>A
ENST00000544516.6:c.157-483G>A	ENSP00000439538.2:n.157-483G>A
ENST00000545576.2:n.931G>A
ENST00000696246.1:c.485G>A	ENSP00000512504.1:p.Arg162Gln
ENST00000696271.1:n.942G>A
ENST00000696272.1:c.515G>A	ENSP00000512515.1:p.Arg172Gln
ENST00000696273.1:c.563G>A	ENSP00000512516.1:p.Arg188Gln
ENST00000229335.11:c.530G>A MANE Select	ENSP00000229335.6:p.Arg177Gln
ENST00000229335.10:c.530G>A	ENSP00000229335.6:p.Arg177Gln
ENST00000537228.5:c.500G>A	ENSP00000445691.1:p.Arg167Gln
ENST00000543081.5:c.423+395G>A
ENST00000544516.5:c.153-483G>A
ENST00000545512.1:c.526G>A
ENST00000545576.1:n.856G>A
NM_020661.2:c.530G>A , LRG_17t1:c.530G>A	NP_065712.1:p.Arg177Gln
XM_011520772.1:c.500G>A	XP_011519074.1:p.Arg167Gln
XM_011520773.1:c.427+395G>A	XP_011519075.1:n.427+395G>A
NM_001330343.1:c.500G>A	NP_001317272.1:p.Arg167Gln
NM_020661.3:c.530G>A	NP_065712.1:p.Arg177Gln
XM_011520773.2:c.427+395G>A	XP_011519075.1:n.427+395G>A
NM_020661.4:c.530G>A MANE Select	NP_065712.1:p.Arg177Gln
NM_001330343.2:c.500G>A	NP_001317272.1:p.Arg167Gln