Canonical Allele Identifier: CA383817381

Gene: AICDA

Linked Data

• MyVariant Identifiers: chr12:g.8757407A>G (hg19) ; chr12:g.8604811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604811A>G , CM000674.2:g.8604811A>G	GRCh38
NC_000012.11:g.8757407A>G , CM000674.1:g.8757407A>G	GRCh37
NC_000012.10:g.8648674A>G	NCBI36
NG_011588.1:g.13036T>C , LRG_17:g.13036T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.509T>C	ENSP00000445691.1:p.Leu170Pro
ENST00000543081.6:c.427+404T>C	ENSP00000439103.2:n.427+404T>C
ENST00000544516.6:c.157-474T>C	ENSP00000439538.2:n.157-474T>C
ENST00000545576.2:n.940T>C
ENST00000696246.1:c.494T>C	ENSP00000512504.1:p.Leu165Pro
ENST00000696271.1:n.951T>C
ENST00000696272.1:c.524T>C	ENSP00000512515.1:p.Leu175Pro
ENST00000696273.1:c.572T>C	ENSP00000512516.1:p.Leu191Pro
ENST00000229335.11:c.539T>C MANE Select	ENSP00000229335.6:p.Leu180Pro
ENST00000229335.10:c.539T>C	ENSP00000229335.6:p.Leu180Pro
ENST00000537228.5:c.509T>C	ENSP00000445691.1:p.Leu170Pro
ENST00000543081.5:c.423+404T>C
ENST00000544516.5:c.153-474T>C
ENST00000545512.1:c.535T>C
ENST00000545576.1:n.865T>C
NM_020661.2:c.539T>C , LRG_17t1:c.539T>C	NP_065712.1:p.Leu180Pro
XM_011520772.1:c.509T>C	XP_011519074.1:p.Leu170Pro
XM_011520773.1:c.427+404T>C	XP_011519075.1:n.427+404T>C
NM_001330343.1:c.509T>C	NP_001317272.1:p.Leu170Pro
NM_020661.3:c.539T>C	NP_065712.1:p.Leu180Pro
XM_011520773.2:c.427+404T>C	XP_011519075.1:n.427+404T>C
NM_020661.4:c.539T>C MANE Select	NP_065712.1:p.Leu180Pro
NM_001330343.2:c.509T>C	NP_001317272.1:p.Leu170Pro