Canonical Allele Identifier: CA383818419

Gene: AICDA

Linked Data

• gnomAD v4: 12-8605247-G-A
• MyVariant Identifiers: chr12:g.8757843G>A (hg19) ; chr12:g.8605247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605247G>A , CM000674.2:g.8605247G>A	GRCh38
NC_000012.11:g.8757843G>A , CM000674.1:g.8757843G>A	GRCh37
NC_000012.10:g.8649110G>A	NCBI36
NG_011588.1:g.12600C>T , LRG_17:g.12600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.395C>T	ENSP00000445691.1:p.Ala132Val
ENST00000543081.6:c.395C>T	ENSP00000439103.2:p.Ala132Val
ENST00000544516.6:c.157-910C>T	ENSP00000439538.2:n.157-910C>T
ENST00000545576.2:n.504C>T
ENST00000696246.1:c.380C>T	ENSP00000512504.1:p.Ala127Val
ENST00000696271.1:n.515C>T
ENST00000696272.1:c.380C>T	ENSP00000512515.1:p.Ala127Val
ENST00000696273.1:c.428C>T	ENSP00000512516.1:p.Ala143Val
ENST00000229335.11:c.395C>T MANE Select	ENSP00000229335.6:p.Ala132Val
ENST00000229335.10:c.395C>T	ENSP00000229335.6:p.Ala132Val
ENST00000537228.5:c.395C>T	ENSP00000445691.1:p.Ala132Val
ENST00000543081.5:c.391C>T
ENST00000544516.5:c.153-910C>T
ENST00000545512.1:c.391C>T
ENST00000545576.1:n.429C>T
NM_020661.2:c.395C>T , LRG_17t1:c.395C>T	NP_065712.1:p.Ala132Val
XM_011520772.1:c.395C>T	XP_011519074.1:p.Ala132Val
XM_011520773.1:c.395C>T	XP_011519075.1:p.Ala132Val
NM_001330343.1:c.395C>T	NP_001317272.1:p.Ala132Val
NM_020661.3:c.395C>T	NP_065712.1:p.Ala132Val
XM_011520773.2:c.395C>T	XP_011519075.1:p.Ala132Val
NM_020661.4:c.395C>T MANE Select	NP_065712.1:p.Ala132Val
NM_001330343.2:c.395C>T	NP_001317272.1:p.Ala132Val