Canonical Allele Identifier: CA383817398

Gene: AICDA

Linked Data

• MyVariant Identifiers: chr12:g.8757411T>A (hg19) ; chr12:g.8604815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604815T>A , CM000674.2:g.8604815T>A	GRCh38
NC_000012.11:g.8757411T>A , CM000674.1:g.8757411T>A	GRCh37
NC_000012.10:g.8648678T>A	NCBI36
NG_011588.1:g.13032A>T , LRG_17:g.13032A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.505A>T	ENSP00000445691.1:p.Ile169Phe
ENST00000543081.6:c.427+400A>T	ENSP00000439103.2:n.427+400A>T
ENST00000544516.6:c.157-478A>T	ENSP00000439538.2:n.157-478A>T
ENST00000545576.2:n.936A>T
ENST00000696246.1:c.490A>T	ENSP00000512504.1:p.Ile164Phe
ENST00000696271.1:n.947A>T
ENST00000696272.1:c.520A>T	ENSP00000512515.1:p.Ile174Phe
ENST00000696273.1:c.568A>T	ENSP00000512516.1:p.Ile190Phe
ENST00000229335.11:c.535A>T MANE Select	ENSP00000229335.6:p.Ile179Phe
ENST00000229335.10:c.535A>T	ENSP00000229335.6:p.Ile179Phe
ENST00000537228.5:c.505A>T	ENSP00000445691.1:p.Ile169Phe
ENST00000543081.5:c.423+400A>T
ENST00000544516.5:c.153-478A>T
ENST00000545512.1:c.531A>T
ENST00000545576.1:n.861A>T
NM_020661.2:c.535A>T , LRG_17t1:c.535A>T	NP_065712.1:p.Ile179Phe
XM_011520772.1:c.505A>T	XP_011519074.1:p.Ile169Phe
XM_011520773.1:c.427+400A>T	XP_011519075.1:n.427+400A>T
NM_001330343.1:c.505A>T	NP_001317272.1:p.Ile169Phe
NM_020661.3:c.535A>T	NP_065712.1:p.Ile179Phe
XM_011520773.2:c.427+400A>T	XP_011519075.1:n.427+400A>T
NM_020661.4:c.535A>T MANE Select	NP_065712.1:p.Ile179Phe
NM_001330343.2:c.505A>T	NP_001317272.1:p.Ile169Phe