Canonical Allele Identifier: CA384038014

Gene: AICDA

Linked Data

• ClinVar Variation Id: 998493
• ClinVar RCV Id: RCV001294356
• dbSNP Id: rs1941294885
• MyVariant Identifiers: chr12:g.8759490A>T (hg19) ; chr12:g.8606894A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8606894A>T , CM000674.2:g.8606894A>T	GRCh38
NC_000012.11:g.8759490A>T , CM000674.1:g.8759490A>T	GRCh37
NC_000012.10:g.8650757A>T	NCBI36
NG_011588.1:g.10953T>A , LRG_17:g.10953T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.127T>A	ENSP00000445691.1:p.Ser43Thr
ENST00000543081.6:c.127T>A	ENSP00000439103.2:p.Ser43Thr
ENST00000544516.6:c.127T>A	ENSP00000439538.2:p.Ser43Thr
ENST00000545576.2:n.236T>A
ENST00000696246.1:c.112T>A	ENSP00000512504.1:p.Ser38Thr
ENST00000696271.1:n.247T>A
ENST00000696272.1:c.112T>A	ENSP00000512515.1:p.Ser38Thr
ENST00000696273.1:c.160T>A	ENSP00000512516.1:p.Ser54Thr
ENST00000229335.11:c.127T>A MANE Select	ENSP00000229335.6:p.Ser43Thr
ENST00000229335.10:c.127T>A	ENSP00000229335.6:p.Ser43Thr
ENST00000537228.5:c.127T>A	ENSP00000445691.1:p.Ser43Thr
ENST00000543081.5:c.123T>A
ENST00000544516.5:c.123T>A
ENST00000545512.1:c.123T>A
ENST00000545576.1:n.161T>A
NM_020661.2:c.127T>A , LRG_17t1:c.127T>A	NP_065712.1:p.Ser43Thr
XM_011520772.1:c.127T>A	XP_011519074.1:p.Ser43Thr
XM_011520773.1:c.127T>A	XP_011519075.1:p.Ser43Thr
NM_001330343.1:c.127T>A	NP_001317272.1:p.Ser43Thr
NM_020661.3:c.127T>A	NP_065712.1:p.Ser43Thr
XM_011520773.2:c.127T>A	XP_011519075.1:p.Ser43Thr
NM_020661.4:c.127T>A MANE Select	NP_065712.1:p.Ser43Thr
NM_001330343.2:c.127T>A	NP_001317272.1:p.Ser43Thr