Canonical Allele Identifier: CA383818981

Gene: AICDA

Linked Data

• ClinVar Variation Id: 652261
• ClinVar RCV Id: RCV000807783
• dbSNP Id: rs1591744388
• MyVariant Identifiers: chr12:g.8757949A>C (hg19) ; chr12:g.8605353A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605353A>C , CM000674.2:g.8605353A>C	GRCh38
NC_000012.11:g.8757949A>C , CM000674.1:g.8757949A>C	GRCh37
NC_000012.10:g.8649216A>C	NCBI36
NG_011588.1:g.12494T>G , LRG_17:g.12494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.289T>G	ENSP00000445691.1:p.Phe97Val
ENST00000543081.6:c.289T>G	ENSP00000439103.2:p.Phe97Val
ENST00000544516.6:c.157-1016T>G	ENSP00000439538.2:n.157-1016T>G
ENST00000545576.2:n.398T>G
ENST00000696246.1:c.274T>G	ENSP00000512504.1:p.Phe92Val
ENST00000696271.1:n.409T>G
ENST00000696272.1:c.274T>G	ENSP00000512515.1:p.Phe92Val
ENST00000696273.1:c.322T>G	ENSP00000512516.1:p.Phe108Val
ENST00000229335.11:c.289T>G MANE Select	ENSP00000229335.6:p.Phe97Val
ENST00000229335.10:c.289T>G	ENSP00000229335.6:p.Phe97Val
ENST00000537228.5:c.289T>G	ENSP00000445691.1:p.Phe97Val
ENST00000543081.5:c.285T>G
ENST00000544516.5:c.153-1016T>G
ENST00000545512.1:c.285T>G
ENST00000545576.1:n.323T>G
NM_020661.2:c.289T>G , LRG_17t1:c.289T>G	NP_065712.1:p.Phe97Val
XM_011520772.1:c.289T>G	XP_011519074.1:p.Phe97Val
XM_011520773.1:c.289T>G	XP_011519075.1:p.Phe97Val
NM_001330343.1:c.289T>G	NP_001317272.1:p.Phe97Val
NM_020661.3:c.289T>G	NP_065712.1:p.Phe97Val
XM_011520773.2:c.289T>G	XP_011519075.1:p.Phe97Val
NM_020661.4:c.289T>G MANE Select	NP_065712.1:p.Phe97Val
NM_001330343.2:c.289T>G	NP_001317272.1:p.Phe97Val