Canonical Allele Identifier: CA383817429

Gene: AICDA

Linked Data

• MyVariant Identifiers: chr12:g.8757419A>T (hg19) ; chr12:g.8604823A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604823A>T , CM000674.2:g.8604823A>T	GRCh38
NC_000012.11:g.8757419A>T , CM000674.1:g.8757419A>T	GRCh37
NC_000012.10:g.8648686A>T	NCBI36
NG_011588.1:g.13024T>A , LRG_17:g.13024T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.497T>A	ENSP00000445691.1:p.Leu166His
ENST00000543081.6:c.427+392T>A	ENSP00000439103.2:n.427+392T>A
ENST00000544516.6:c.157-486T>A	ENSP00000439538.2:n.157-486T>A
ENST00000545576.2:n.928T>A
ENST00000696246.1:c.482T>A	ENSP00000512504.1:p.Leu161His
ENST00000696271.1:n.939T>A
ENST00000696272.1:c.512T>A	ENSP00000512515.1:p.Leu171His
ENST00000696273.1:c.560T>A	ENSP00000512516.1:p.Leu187His
ENST00000229335.11:c.527T>A MANE Select	ENSP00000229335.6:p.Leu176His
ENST00000229335.10:c.527T>A	ENSP00000229335.6:p.Leu176His
ENST00000537228.5:c.497T>A	ENSP00000445691.1:p.Leu166His
ENST00000543081.5:c.423+392T>A
ENST00000544516.5:c.153-486T>A
ENST00000545512.1:c.523T>A
ENST00000545576.1:n.853T>A
NM_020661.2:c.527T>A , LRG_17t1:c.527T>A	NP_065712.1:p.Leu176His
XM_011520772.1:c.497T>A	XP_011519074.1:p.Leu166His
XM_011520773.1:c.427+392T>A	XP_011519075.1:n.427+392T>A
NM_001330343.1:c.497T>A	NP_001317272.1:p.Leu166His
NM_020661.3:c.527T>A	NP_065712.1:p.Leu176His
XM_011520773.2:c.427+392T>A	XP_011519075.1:n.427+392T>A
NM_020661.4:c.527T>A MANE Select	NP_065712.1:p.Leu176His
NM_001330343.2:c.497T>A	NP_001317272.1:p.Leu166His