Canonical Allele Identifier: CA383817856

Gene: AICDA

Linked Data

• gnomAD v4: 12-8604892-T-C
• MyVariant Identifiers: chr12:g.8757488T>C (hg19) ; chr12:g.8604892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604892T>C , CM000674.2:g.8604892T>C	GRCh38
NC_000012.11:g.8757488T>C , CM000674.1:g.8757488T>C	GRCh37
NC_000012.10:g.8648755T>C	NCBI36
NG_011588.1:g.12955A>G , LRG_17:g.12955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.428A>G	ENSP00000445691.1:p.Glu143Gly
ENST00000543081.6:c.427+323A>G	ENSP00000439103.2:n.427+323A>G
ENST00000544516.6:c.157-555A>G	ENSP00000439538.2:n.157-555A>G
ENST00000545576.2:n.859A>G
ENST00000696246.1:c.413A>G	ENSP00000512504.1:p.Glu138Gly
ENST00000696271.1:n.870A>G
ENST00000696272.1:c.443A>G	ENSP00000512515.1:p.Glu148Gly
ENST00000696273.1:c.491A>G	ENSP00000512516.1:p.Glu164Gly
ENST00000229335.11:c.458A>G MANE Select	ENSP00000229335.6:p.Glu153Gly
ENST00000229335.10:c.458A>G	ENSP00000229335.6:p.Glu153Gly
ENST00000537228.5:c.428A>G	ENSP00000445691.1:p.Glu143Gly
ENST00000543081.5:c.423+323A>G
ENST00000544516.5:c.153-555A>G
ENST00000545512.1:c.454A>G
ENST00000545576.1:n.784A>G
NM_020661.2:c.458A>G , LRG_17t1:c.458A>G	NP_065712.1:p.Glu153Gly
XM_011520772.1:c.428A>G	XP_011519074.1:p.Glu143Gly
XM_011520773.1:c.427+323A>G	XP_011519075.1:n.427+323A>G
NM_001330343.1:c.428A>G	NP_001317272.1:p.Glu143Gly
NM_020661.3:c.458A>G	NP_065712.1:p.Glu153Gly
XM_011520773.2:c.427+323A>G	XP_011519075.1:n.427+323A>G
NM_020661.4:c.458A>G MANE Select	NP_065712.1:p.Glu153Gly
NM_001330343.2:c.428A>G	NP_001317272.1:p.Glu143Gly