Canonical Allele Identifier: CA383817385

Gene: AICDA

Linked Data

• COSMIC: COSM278724
• MyVariant Identifiers: chr12:g.8757408G>T (hg19) ; chr12:g.8604812G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604812G>T , CM000674.2:g.8604812G>T	GRCh38
NC_000012.11:g.8757408G>T , CM000674.1:g.8757408G>T	GRCh37
NC_000012.10:g.8648675G>T	NCBI36
NG_011588.1:g.13035C>A , LRG_17:g.13035C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.508C>A	ENSP00000445691.1:p.Leu170Ile
ENST00000543081.6:c.427+403C>A	ENSP00000439103.2:n.427+403C>A
ENST00000544516.6:c.157-475C>A	ENSP00000439538.2:n.157-475C>A
ENST00000545576.2:n.939C>A
ENST00000696246.1:c.493C>A	ENSP00000512504.1:p.Leu165Ile
ENST00000696271.1:n.950C>A
ENST00000696272.1:c.523C>A	ENSP00000512515.1:p.Leu175Ile
ENST00000696273.1:c.571C>A	ENSP00000512516.1:p.Leu191Ile
ENST00000229335.11:c.538C>A MANE Select	ENSP00000229335.6:p.Leu180Ile
ENST00000229335.10:c.538C>A	ENSP00000229335.6:p.Leu180Ile
ENST00000537228.5:c.508C>A	ENSP00000445691.1:p.Leu170Ile
ENST00000543081.5:c.423+403C>A
ENST00000544516.5:c.153-475C>A
ENST00000545512.1:c.534C>A
ENST00000545576.1:n.864C>A
NM_020661.2:c.538C>A , LRG_17t1:c.538C>A	NP_065712.1:p.Leu180Ile
XM_011520772.1:c.508C>A	XP_011519074.1:p.Leu170Ile
XM_011520773.1:c.427+403C>A	XP_011519075.1:n.427+403C>A
NM_001330343.1:c.508C>A	NP_001317272.1:p.Leu170Ile
NM_020661.3:c.538C>A	NP_065712.1:p.Leu180Ile
XM_011520773.2:c.427+403C>A	XP_011519075.1:n.427+403C>A
NM_020661.4:c.538C>A MANE Select	NP_065712.1:p.Leu180Ile
NM_001330343.2:c.508C>A	NP_001317272.1:p.Leu170Ile