Canonical Allele Identifier: CA383818353

Gene: AICDA

Linked Data

• ClinVar Variation Id: 1714430
• ClinVar RCV Id: RCV002297352
• dbSNP Id: rs1941263697
• gnomAD v4: 12-8605236-T-C
• MyVariant Identifiers: chr12:g.8757832T>C (hg19) ; chr12:g.8605236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605236T>C , CM000674.2:g.8605236T>C	GRCh38
NC_000012.11:g.8757832T>C , CM000674.1:g.8757832T>C	GRCh37
NC_000012.10:g.8649099T>C	NCBI36
NG_011588.1:g.12611A>G , LRG_17:g.12611A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.406A>G	ENSP00000445691.1:p.Ile136Val
ENST00000543081.6:c.406A>G	ENSP00000439103.2:p.Ile136Val
ENST00000544516.6:c.157-899A>G	ENSP00000439538.2:n.157-899A>G
ENST00000545576.2:n.515A>G
ENST00000696246.1:c.391A>G	ENSP00000512504.1:p.Ile131Val
ENST00000696271.1:n.526A>G
ENST00000696272.1:c.391A>G	ENSP00000512515.1:p.Ile131Val
ENST00000696273.1:c.439A>G	ENSP00000512516.1:p.Ile147Val
ENST00000229335.11:c.406A>G MANE Select	ENSP00000229335.6:p.Ile136Val
ENST00000229335.10:c.406A>G	ENSP00000229335.6:p.Ile136Val
ENST00000537228.5:c.406A>G	ENSP00000445691.1:p.Ile136Val
ENST00000543081.5:c.402A>G
ENST00000544516.5:c.153-899A>G
ENST00000545512.1:c.402A>G
ENST00000545576.1:n.440A>G
NM_020661.2:c.406A>G , LRG_17t1:c.406A>G	NP_065712.1:p.Ile136Val
XM_011520772.1:c.406A>G	XP_011519074.1:p.Ile136Val
XM_011520773.1:c.406A>G	XP_011519075.1:p.Ile136Val
NM_001330343.1:c.406A>G	NP_001317272.1:p.Ile136Val
NM_020661.3:c.406A>G	NP_065712.1:p.Ile136Val
XM_011520773.2:c.406A>G	XP_011519075.1:p.Ile136Val
NM_020661.4:c.406A>G MANE Select	NP_065712.1:p.Ile136Val
NM_001330343.2:c.406A>G	NP_001317272.1:p.Ile136Val