Canonical Allele Identifier: CA6434449

Gene: AICDA

Linked Data

• ClinVar Variation Id: 310581
• ClinVar RCV Id: RCV000888812 ; RCV001194080 ; RCV003910150
• dbSNP Id: rs201210527
• ExAC: 12:8757939 C / G
• gnomAD v2: 12-8757939-C-G
• gnomAD v3: 12-8605343-C-G
• gnomAD v4: 12-8605343-C-G
• MyVariant Identifiers: chr12:g.8757939C>G (hg19) ; chr12:g.8605343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605343C>G , CM000674.2:g.8605343C>G	GRCh38
NC_000012.11:g.8757939C>G , CM000674.1:g.8757939C>G	GRCh37
NC_000012.10:g.8649206C>G	NCBI36
NG_011588.1:g.12504G>C , LRG_17:g.12504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.299G>C	ENSP00000445691.1:p.Gly100Ala
ENST00000543081.6:c.299G>C	ENSP00000439103.2:p.Gly100Ala
ENST00000544516.6:c.157-1006G>C	ENSP00000439538.2:n.157-1006G>C
ENST00000545576.2:n.408G>C
ENST00000696246.1:c.284G>C	ENSP00000512504.1:p.Gly95Ala
ENST00000696271.1:n.419G>C
ENST00000696272.1:c.284G>C	ENSP00000512515.1:p.Gly95Ala
ENST00000696273.1:c.332G>C	ENSP00000512516.1:p.Gly111Ala
ENST00000229335.11:c.299G>C MANE Select	ENSP00000229335.6:p.Gly100Ala
ENST00000229335.10:c.299G>C	ENSP00000229335.6:p.Gly100Ala
ENST00000537228.5:c.299G>C	ENSP00000445691.1:p.Gly100Ala
ENST00000543081.5:c.295G>C
ENST00000544516.5:c.153-1006G>C
ENST00000545512.1:c.295G>C
ENST00000545576.1:n.333G>C
NM_020661.2:c.299G>C , LRG_17t1:c.299G>C	NP_065712.1:p.Gly100Ala
XM_011520772.1:c.299G>C	XP_011519074.1:p.Gly100Ala
XM_011520773.1:c.299G>C	XP_011519075.1:p.Gly100Ala
NM_001330343.1:c.299G>C	NP_001317272.1:p.Gly100Ala
NM_020661.3:c.299G>C	NP_065712.1:p.Gly100Ala
XM_011520773.2:c.299G>C	XP_011519075.1:p.Gly100Ala
NM_020661.4:c.299G>C MANE Select	NP_065712.1:p.Gly100Ala
NM_001330343.2:c.299G>C	NP_001317272.1:p.Gly100Ala