Canonical Allele Identifier: CA944538008
Gene: AICDA HGNC NCBI

Linked Data

dbSNP Id: rs1941249264
gnomAD v3: 12-8604746-G-A
gnomAD v4: 12-8604746-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8604746G>A , CM000674.2:g.8604746G>A GRCh38
NC_000012.11:g.8757342G>A , CM000674.1:g.8757342G>A GRCh37
NC_000012.10:g.8648609G>A NCBI36
NG_011588.1:g.13101C>T , LRG_17:g.13101C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000537228.6:c.513+61C>T ENSP00000445691.1:n.513+61C>T
ENST00000543081.6:c.428-409C>T ENSP00000439103.2:n.428-409C>T
ENST00000544516.6:c.157-409C>T ENSP00000439538.2:n.157-409C>T
ENST00000545576.2:n.944+61C>T
ENST00000696246.1:c.498+61C>T ENSP00000512504.1:n.498+61C>T
ENST00000696271.1:n.955+61C>T
ENST00000696272.1:c.528+61C>T ENSP00000512515.1:n.528+61C>T
ENST00000696273.1:c.576+61C>T ENSP00000512516.1:n.576+61C>T
ENST00000229335.11:c.543+61C>T MANE Select ENSP00000229335.6:n.543+61C>T
ENST00000229335.10:c.543+61C>T ENSP00000229335.6:n.543+61C>T
ENST00000537228.5:c.513+61C>T ENSP00000445691.1:n.513+61C>T
ENST00000543081.5:c.424-409C>T
ENST00000544516.5:c.153-409C>T
ENST00000545512.1:c.539+61C>T
ENST00000545576.1:n.869+61C>T
NM_020661.2:c.543+61C>T , LRG_17t1:c.543+61C>T NP_065712.1:n.543+61C>T
XM_011520772.1:c.513+61C>T XP_011519074.1:n.513+61C>T
XM_011520773.1:c.428-409C>T XP_011519075.1:n.428-409C>T
NM_001330343.1:c.513+61C>T NP_001317272.1:n.513+61C>T
NM_020661.3:c.543+61C>T NP_065712.1:n.543+61C>T
XM_011520773.2:c.428-409C>T XP_011519075.1:n.428-409C>T
NM_020661.4:c.543+61C>T MANE Select NP_065712.1:n.543+61C>T
NM_001330343.2:c.513+61C>T NP_001317272.1:n.513+61C>T