Canonical Allele Identifier: CA383818043
Gene: AICDA HGNC NCBI

Linked Data

ClinVar Variation Id: 806828
ClinVar RCV Id: RCV000994846
dbSNP Id: rs766361035
gnomAD v2: 12-8757519-C-A
gnomAD v3: 12-8604923-C-A
gnomAD v4: 12-8604923-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8604923C>A , CM000674.2:g.8604923C>A GRCh38
NC_000012.11:g.8757519C>A , CM000674.1:g.8757519C>A GRCh37
NC_000012.10:g.8648786C>A NCBI36
NG_011588.1:g.12924G>T , LRG_17:g.12924G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000537228.6:c.428-31G>T ENSP00000445691.1:n.428-31G>T
ENST00000543081.6:c.427+292G>T ENSP00000439103.2:n.427+292G>T
ENST00000544516.6:c.157-586G>T ENSP00000439538.2:n.157-586G>T
ENST00000545576.2:n.828G>T
ENST00000696246.1:c.413-31G>T ENSP00000512504.1:n.413-31G>T
ENST00000696271.1:n.839G>T
ENST00000696272.1:c.413-1G>T ENSP00000512515.1:n.413-1G>T
ENST00000696273.1:c.461-1G>T ENSP00000512516.1:n.461-1G>T
ENST00000229335.11:c.428-1G>T MANE Select ENSP00000229335.6:n.428-1G>T
ENST00000229335.10:c.428-1G>T ENSP00000229335.6:n.428-1G>T
ENST00000537228.5:c.428-31G>T ENSP00000445691.1:n.428-31G>T
ENST00000543081.5:c.423+292G>T
ENST00000544516.5:c.153-586G>T
ENST00000545512.1:c.424-1G>T
ENST00000545576.1:n.753G>T
NM_020661.2:c.428-1G>T , LRG_17t1:c.428-1G>T NP_065712.1:n.428-1G>T
XM_011520772.1:c.428-31G>T XP_011519074.1:n.428-31G>T
XM_011520773.1:c.427+292G>T XP_011519075.1:n.427+292G>T
NM_001330343.1:c.428-31G>T NP_001317272.1:n.428-31G>T
NM_020661.3:c.428-1G>T NP_065712.1:n.428-1G>T
XM_011520773.2:c.427+292G>T XP_011519075.1:n.427+292G>T
NM_020661.4:c.428-1G>T MANE Select NP_065712.1:n.428-1G>T
NM_001330343.2:c.428-31G>T NP_001317272.1:n.428-31G>T