Canonical Allele Identifier: CA6434363
Gene: AICDA HGNC NCBI

Linked Data

dbSNP Id: rs775814283
gnomAD v2: 12-8757480-C-T
gnomAD v3: 12-8604884-C-T
gnomAD v4: 12-8604884-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8604884C>T , CM000674.2:g.8604884C>T GRCh38
NC_000012.11:g.8757480C>T , CM000674.1:g.8757480C>T GRCh37
NC_000012.10:g.8648747C>T NCBI36
NG_011588.1:g.12963G>A , LRG_17:g.12963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000537228.6:c.436G>A ENSP00000445691.1:p.Glu146Lys
ENST00000543081.6:c.427+331G>A ENSP00000439103.2:n.427+331G>A
ENST00000544516.6:c.157-547G>A ENSP00000439538.2:n.157-547G>A
ENST00000545576.2:n.867G>A
ENST00000696246.1:c.421G>A ENSP00000512504.1:p.Glu141Lys
ENST00000696271.1:n.878G>A
ENST00000696272.1:c.451G>A ENSP00000512515.1:p.Glu151Lys
ENST00000696273.1:c.499G>A ENSP00000512516.1:p.Glu167Lys
ENST00000229335.11:c.466G>A MANE Select ENSP00000229335.6:p.Glu156Lys
ENST00000229335.10:c.466G>A ENSP00000229335.6:p.Glu156Lys
ENST00000537228.5:c.436G>A ENSP00000445691.1:p.Glu146Lys
ENST00000543081.5:c.423+331G>A
ENST00000544516.5:c.153-547G>A
ENST00000545512.1:c.462G>A
ENST00000545576.1:n.792G>A
NM_020661.2:c.466G>A , LRG_17t1:c.466G>A NP_065712.1:p.Glu156Lys
XM_011520772.1:c.436G>A XP_011519074.1:p.Glu146Lys
XM_011520773.1:c.427+331G>A XP_011519075.1:n.427+331G>A
NM_001330343.1:c.436G>A NP_001317272.1:p.Glu146Lys
NM_020661.3:c.466G>A NP_065712.1:p.Glu156Lys
XM_011520773.2:c.427+331G>A XP_011519075.1:n.427+331G>A
NM_020661.4:c.466G>A MANE Select NP_065712.1:p.Glu156Lys
NM_001330343.2:c.436G>A NP_001317272.1:p.Glu146Lys