Canonical Allele Identifier: CA383817832

Gene: AICDA

Linked Data

• gnomAD v4: 12-8604886-T-A
• MyVariant Identifiers: chr12:g.8757482T>A (hg19) ; chr12:g.8604886T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604886T>A , CM000674.2:g.8604886T>A	GRCh38
NC_000012.11:g.8757482T>A , CM000674.1:g.8757482T>A	GRCh37
NC_000012.10:g.8648749T>A	NCBI36
NG_011588.1:g.12961A>T , LRG_17:g.12961A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.434A>T	ENSP00000445691.1:p.His145Leu
ENST00000543081.6:c.427+329A>T	ENSP00000439103.2:n.427+329A>T
ENST00000544516.6:c.157-549A>T	ENSP00000439538.2:n.157-549A>T
ENST00000545576.2:n.865A>T
ENST00000696246.1:c.419A>T	ENSP00000512504.1:p.His140Leu
ENST00000696271.1:n.876A>T
ENST00000696272.1:c.449A>T	ENSP00000512515.1:p.His150Leu
ENST00000696273.1:c.497A>T	ENSP00000512516.1:p.His166Leu
ENST00000229335.11:c.464A>T MANE Select	ENSP00000229335.6:p.His155Leu
ENST00000229335.10:c.464A>T	ENSP00000229335.6:p.His155Leu
ENST00000537228.5:c.434A>T	ENSP00000445691.1:p.His145Leu
ENST00000543081.5:c.423+329A>T
ENST00000544516.5:c.153-549A>T
ENST00000545512.1:c.460A>T
ENST00000545576.1:n.790A>T
NM_020661.2:c.464A>T , LRG_17t1:c.464A>T	NP_065712.1:p.His155Leu
XM_011520772.1:c.434A>T	XP_011519074.1:p.His145Leu
XM_011520773.1:c.427+329A>T	XP_011519075.1:n.427+329A>T
NM_001330343.1:c.434A>T	NP_001317272.1:p.His145Leu
NM_020661.3:c.464A>T	NP_065712.1:p.His155Leu
XM_011520773.2:c.427+329A>T	XP_011519075.1:n.427+329A>T
NM_020661.4:c.464A>T MANE Select	NP_065712.1:p.His155Leu
NM_001330343.2:c.434A>T	NP_001317272.1:p.His145Leu