Canonical Allele Identifier: CA117275
Gene: AICDA HGNC NCBI

Linked Data

ClinVar Variation Id: 5126
ClinVar RCV Id: RCV000005433 RCV003333948
dbSNP Id: rs104894322
MyVariant Identifiers: chr12:g.8757823T>C (hg19) chr12:g.8605227T>C (hg38)
PubMed: PMID:11007475
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605227T>C , CM000674.2:g.8605227T>C GRCh38
NC_000012.11:g.8757823T>C , CM000674.1:g.8757823T>C GRCh37
NC_000012.10:g.8649090T>C NCBI36
NG_011588.1:g.12620A>G , LRG_17:g.12620A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000537228.6:c.415A>G ENSP00000445691.1:p.Met139Val
ENST00000543081.6:c.415A>G ENSP00000439103.2:p.Met139Val
ENST00000544516.6:c.157-890A>G ENSP00000439538.2:n.157-890A>G
ENST00000545576.2:n.524A>G
ENST00000696246.1:c.400A>G ENSP00000512504.1:p.Met134Val
ENST00000696271.1:n.535A>G
ENST00000696272.1:c.400A>G ENSP00000512515.1:p.Met134Val
ENST00000696273.1:c.448A>G ENSP00000512516.1:p.Met150Val
ENST00000229335.11:c.415A>G MANE Select ENSP00000229335.6:p.Met139Val
ENST00000229335.10:c.415A>G ENSP00000229335.6:p.Met139Val
ENST00000537228.5:c.415A>G ENSP00000445691.1:p.Met139Val
ENST00000543081.5:c.411A>G
ENST00000544516.5:c.153-890A>G
ENST00000545512.1:c.411A>G
ENST00000545576.1:n.449A>G
NM_020661.2:c.415A>G , LRG_17t1:c.415A>G NP_065712.1:p.Met139Val
XM_011520772.1:c.415A>G XP_011519074.1:p.Met139Val
XM_011520773.1:c.415A>G XP_011519075.1:p.Met139Val
NM_001330343.1:c.415A>G NP_001317272.1:p.Met139Val
NM_020661.3:c.415A>G NP_065712.1:p.Met139Val
XM_011520773.2:c.415A>G XP_011519075.1:p.Met139Val
NM_020661.4:c.415A>G MANE Select NP_065712.1:p.Met139Val
NM_001330343.2:c.415A>G NP_001317272.1:p.Met139Val
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