Canonical Allele Identifier: CA10643417

Gene: AICDA

Linked Data

• ClinVar Variation Id: 310557
• ClinVar RCV Id: RCV000286540
• dbSNP Id: rs773190855
• gnomAD v2: 12-8755741-T-C
• gnomAD v3: 12-8603145-T-C
• gnomAD v4: 12-8603145-T-C
• MyVariant Identifiers: chr12:g.8755741T>C (hg19) ; chr12:g.8603145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8603145T>C , CM000674.2:g.8603145T>C	GRCh38
NC_000012.11:g.8755741T>C , CM000674.1:g.8755741T>C	GRCh37
NC_000012.10:g.8647008T>C	NCBI36
NG_011588.1:g.14702A>G , LRG_17:g.14702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.*1139A>G	ENSP00000445691.1:n.*1139A>G
ENST00000543081.6:c.*1182A>G	ENSP00000439103.2:n.*1182A>G
ENST00000545576.2:n.2137A>G
ENST00000696246.1:c.*1139A>G	ENSP00000512504.1:n.*1139A>G
ENST00000696271.1:n.2148A>G
ENST00000696272.1:c.*1139A>G	ENSP00000512515.1:n.*1139A>G
ENST00000696273.1:c.*1139A>G	ENSP00000512516.1:n.*1139A>G
ENST00000229335.11:c.*1139A>G MANE Select	ENSP00000229335.6:n.*1139A>G
ENST00000229335.10:c.*1139A>G	ENSP00000229335.6:n.*1139A>G
NM_020661.2:c.*1139A>G , LRG_17t1:c.*1139A>G	NP_065712.1:n.*1139A>G
XM_011520772.1:c.*1139A>G	XP_011519074.1:n.*1139A>G
NM_001330343.1:c.*1139A>G	NP_001317272.1:n.*1139A>G
NM_020661.3:c.*1139A>G	NP_065712.1:n.*1139A>G
NM_020661.4:c.*1139A>G MANE Select	NP_065712.1:n.*1139A>G
NM_001330343.2:c.*1139A>G	NP_001317272.1:n.*1139A>G