Canonical Allele Identifier: CA383817365

Gene: AICDA

Linked Data

• MyVariant Identifiers: chr12:g.8757403C>A (hg19) ; chr12:g.8604807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604807C>A , CM000674.2:g.8604807C>A	GRCh38
NC_000012.11:g.8757403C>A , CM000674.1:g.8757403C>A	GRCh37
NC_000012.10:g.8648670C>A	NCBI36
NG_011588.1:g.13040G>T , LRG_17:g.13040G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.513G>T	ENSP00000445691.1:p.Leu171Phe
ENST00000543081.6:c.427+408G>T	ENSP00000439103.2:n.427+408G>T
ENST00000544516.6:c.157-470G>T	ENSP00000439538.2:n.157-470G>T
ENST00000545576.2:n.944G>T
ENST00000696246.1:c.498G>T	ENSP00000512504.1:p.Leu166Phe
ENST00000696271.1:n.955G>T
ENST00000696272.1:c.528G>T	ENSP00000512515.1:p.Leu176Phe
ENST00000696273.1:c.576G>T	ENSP00000512516.1:p.Leu192Phe
ENST00000229335.11:c.543G>T MANE Select	ENSP00000229335.6:p.Leu181Phe
ENST00000229335.10:c.543G>T	ENSP00000229335.6:p.Leu181Phe
ENST00000537228.5:c.513G>T	ENSP00000445691.1:p.Leu171Phe
ENST00000543081.5:c.423+408G>T
ENST00000544516.5:c.153-470G>T
ENST00000545512.1:c.539G>T
ENST00000545576.1:n.869G>T
NM_020661.2:c.543G>T , LRG_17t1:c.543G>T	NP_065712.1:p.Leu181Phe
XM_011520772.1:c.513G>T	XP_011519074.1:p.Leu171Phe
XM_011520773.1:c.427+408G>T	XP_011519075.1:n.427+408G>T
NM_001330343.1:c.513G>T	NP_001317272.1:p.Leu171Phe
NM_020661.3:c.543G>T	NP_065712.1:p.Leu181Phe
XM_011520773.2:c.427+408G>T	XP_011519075.1:n.427+408G>T
NM_020661.4:c.543G>T MANE Select	NP_065712.1:p.Leu181Phe
NM_001330343.2:c.513G>T	NP_001317272.1:p.Leu171Phe