Canonical Allele Identifier: CA6434399
Gene: AICDA HGNC NCBI

Linked Data

dbSNP Id: rs180946556
gnomAD v2: 12-8757766-A-G
gnomAD v3: 12-8605170-A-G
gnomAD v4: 12-8605170-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605170A>G , CM000674.2:g.8605170A>G GRCh38
NC_000012.11:g.8757766A>G , CM000674.1:g.8757766A>G GRCh37
NC_000012.10:g.8649033A>G NCBI36
NG_011588.1:g.12677T>C , LRG_17:g.12677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000537228.6:c.427+45T>C ENSP00000445691.1:n.427+45T>C
ENST00000543081.6:c.427+45T>C ENSP00000439103.2:n.427+45T>C
ENST00000544516.6:c.157-833T>C ENSP00000439538.2:n.157-833T>C
ENST00000545576.2:n.581T>C
ENST00000696246.1:c.412+45T>C ENSP00000512504.1:n.412+45T>C
ENST00000696271.1:n.592T>C
ENST00000696272.1:c.412+45T>C ENSP00000512515.1:n.412+45T>C
ENST00000696273.1:c.460+45T>C ENSP00000512516.1:n.460+45T>C
ENST00000229335.11:c.427+45T>C MANE Select ENSP00000229335.6:n.427+45T>C
ENST00000229335.10:c.427+45T>C ENSP00000229335.6:n.427+45T>C
ENST00000537228.5:c.427+45T>C ENSP00000445691.1:n.427+45T>C
ENST00000543081.5:c.423+45T>C
ENST00000544516.5:c.153-833T>C
ENST00000545512.1:c.423+45T>C
ENST00000545576.1:n.506T>C
NM_020661.2:c.427+45T>C , LRG_17t1:c.427+45T>C NP_065712.1:n.427+45T>C
XM_011520772.1:c.427+45T>C XP_011519074.1:n.427+45T>C
XM_011520773.1:c.427+45T>C XP_011519075.1:n.427+45T>C
NM_001330343.1:c.427+45T>C NP_001317272.1:n.427+45T>C
NM_020661.3:c.427+45T>C NP_065712.1:n.427+45T>C
XM_011520773.2:c.427+45T>C XP_011519075.1:n.427+45T>C
NM_020661.4:c.427+45T>C MANE Select NP_065712.1:n.427+45T>C
NM_001330343.2:c.427+45T>C NP_001317272.1:n.427+45T>C