Canonical Allele Identifier: CA213487
Gene: AICDA HGNC NCBI

Linked Data

ClinVar Variation Id: 35656
ClinVar RCV Id: RCV000029304
dbSNP Id: rs193922704
ExAC: 12:8757864 C / T
gnomAD v2: 12-8757864-C-T
gnomAD v3: 12-8605268-C-T
gnomAD v4: 12-8605268-C-T
MyVariant Identifiers: chr12:g.8757864C>T (hg19) chr12:g.8605268C>T (hg38)
PubMed: PMID:20652909
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605268C>T , CM000674.2:g.8605268C>T GRCh38
NC_000012.11:g.8757864C>T , CM000674.1:g.8757864C>T GRCh37
NC_000012.10:g.8649131C>T NCBI36
NG_011588.1:g.12579G>A , LRG_17:g.12579G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000537228.6:c.374G>A ENSP00000445691.1:p.Gly125Glu
ENST00000543081.6:c.374G>A ENSP00000439103.2:p.Gly125Glu
ENST00000544516.6:c.157-931G>A ENSP00000439538.2:n.157-931G>A
ENST00000545576.2:n.483G>A
ENST00000696246.1:c.359G>A ENSP00000512504.1:p.Gly120Glu
ENST00000696271.1:n.494G>A
ENST00000696272.1:c.359G>A ENSP00000512515.1:p.Gly120Glu
ENST00000696273.1:c.407G>A ENSP00000512516.1:p.Gly136Glu
ENST00000229335.11:c.374G>A MANE Select ENSP00000229335.6:p.Gly125Glu
ENST00000229335.10:c.374G>A ENSP00000229335.6:p.Gly125Glu
ENST00000537228.5:c.374G>A ENSP00000445691.1:p.Gly125Glu
ENST00000543081.5:c.370G>A
ENST00000544516.5:c.153-931G>A
ENST00000545512.1:c.370G>A
ENST00000545576.1:n.408G>A
NM_020661.2:c.374G>A , LRG_17t1:c.374G>A NP_065712.1:p.Gly125Glu
XM_011520772.1:c.374G>A XP_011519074.1:p.Gly125Glu
XM_011520773.1:c.374G>A XP_011519075.1:p.Gly125Glu
NM_001330343.1:c.374G>A NP_001317272.1:p.Gly125Glu
NM_020661.3:c.374G>A NP_065712.1:p.Gly125Glu
XM_011520773.2:c.374G>A XP_011519075.1:p.Gly125Glu
NM_020661.4:c.374G>A MANE Select NP_065712.1:p.Gly125Glu
NM_001330343.2:c.374G>A NP_001317272.1:p.Gly125Glu
Search 100 bp 5'
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