Canonical Allele Identifier: CA383818194
Gene: AICDA HGNC NCBI

Linked Data

dbSNP Id: rs1941262637
gnomAD v3: 12-8605213-A-G
gnomAD v4: 12-8605213-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605213A>G , CM000674.2:g.8605213A>G GRCh38
NC_000012.11:g.8757809A>G , CM000674.1:g.8757809A>G GRCh37
NC_000012.10:g.8649076A>G NCBI36
NG_011588.1:g.12634T>C , LRG_17:g.12634T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000537228.6:c.427+2T>C ENSP00000445691.1:n.427+2T>C
ENST00000543081.6:c.427+2T>C ENSP00000439103.2:n.427+2T>C
ENST00000544516.6:c.157-876T>C ENSP00000439538.2:n.157-876T>C
ENST00000545576.2:n.538T>C
ENST00000696246.1:c.412+2T>C ENSP00000512504.1:n.412+2T>C
ENST00000696271.1:n.549T>C
ENST00000696272.1:c.412+2T>C ENSP00000512515.1:n.412+2T>C
ENST00000696273.1:c.460+2T>C ENSP00000512516.1:n.460+2T>C
ENST00000229335.11:c.427+2T>C MANE Select ENSP00000229335.6:n.427+2T>C
ENST00000229335.10:c.427+2T>C ENSP00000229335.6:n.427+2T>C
ENST00000537228.5:c.427+2T>C ENSP00000445691.1:n.427+2T>C
ENST00000543081.5:c.423+2T>C
ENST00000544516.5:c.153-876T>C
ENST00000545512.1:c.423+2T>C
ENST00000545576.1:n.463T>C
NM_020661.2:c.427+2T>C , LRG_17t1:c.427+2T>C NP_065712.1:n.427+2T>C
XM_011520772.1:c.427+2T>C XP_011519074.1:n.427+2T>C
XM_011520773.1:c.427+2T>C XP_011519075.1:n.427+2T>C
NM_001330343.1:c.427+2T>C NP_001317272.1:n.427+2T>C
NM_020661.3:c.427+2T>C NP_065712.1:n.427+2T>C
XM_011520773.2:c.427+2T>C XP_011519075.1:n.427+2T>C
NM_020661.4:c.427+2T>C MANE Select NP_065712.1:n.427+2T>C
NM_001330343.2:c.427+2T>C NP_001317272.1:n.427+2T>C