Canonical Allele Identifier: CA383817402

Gene: AICDA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.505A>C	ENSP00000445691.1:p.Ile169Leu
ENST00000543081.6:c.427+400A>C	ENSP00000439103.2:n.427+400A>C
ENST00000544516.6:c.157-478A>C	ENSP00000439538.2:n.157-478A>C
ENST00000545576.2:n.936A>C
ENST00000696246.1:c.490A>C	ENSP00000512504.1:p.Ile164Leu
ENST00000696271.1:n.947A>C
ENST00000696272.1:c.520A>C	ENSP00000512515.1:p.Ile174Leu
ENST00000696273.1:c.568A>C	ENSP00000512516.1:p.Ile190Leu
ENST00000229335.11:c.535A>C MANE Select	ENSP00000229335.6:p.Ile179Leu
ENST00000229335.10:c.535A>C	ENSP00000229335.6:p.Ile179Leu
ENST00000537228.5:c.505A>C	ENSP00000445691.1:p.Ile169Leu
ENST00000543081.5:c.423+400A>C
ENST00000544516.5:c.153-478A>C
ENST00000545512.1:c.531A>C
ENST00000545576.1:n.861A>C
NM_020661.2:c.535A>C , LRG_17t1:c.535A>C	NP_065712.1:p.Ile179Leu
XM_011520772.1:c.505A>C	XP_011519074.1:p.Ile169Leu
XM_011520773.1:c.427+400A>C	XP_011519075.1:n.427+400A>C
NM_001330343.1:c.505A>C	NP_001317272.1:p.Ile169Leu
NM_020661.3:c.535A>C	NP_065712.1:p.Ile179Leu
XM_011520773.2:c.427+400A>C	XP_011519075.1:n.427+400A>C
NM_020661.4:c.535A>C MANE Select	NP_065712.1:p.Ile179Leu
NM_001330343.2:c.505A>C	NP_001317272.1:p.Ile169Leu