Canonical Allele Identifier: CA6434466

Gene: AICDA

Linked Data

• dbSNP Id: rs764543443
• ExAC: 12:8758005 A / G
• gnomAD v2: 12-8758005-A-G
• gnomAD v4: 12-8605409-A-G
• MyVariant Identifiers: chr12:g.8758005A>G (hg19) ; chr12:g.8605409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605409A>G , CM000674.2:g.8605409A>G	GRCh38
NC_000012.11:g.8758005A>G , CM000674.1:g.8758005A>G	GRCh37
NC_000012.10:g.8649272A>G	NCBI36
NG_011588.1:g.12438T>C , LRG_17:g.12438T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.233T>C	ENSP00000445691.1:p.Val78Ala
ENST00000543081.6:c.233T>C	ENSP00000439103.2:p.Val78Ala
ENST00000544516.6:c.157-1072T>C	ENSP00000439538.2:n.157-1072T>C
ENST00000545576.2:n.342T>C
ENST00000696246.1:c.218T>C	ENSP00000512504.1:p.Val73Ala
ENST00000696271.1:n.353T>C
ENST00000696272.1:c.218T>C	ENSP00000512515.1:p.Val73Ala
ENST00000696273.1:c.266T>C	ENSP00000512516.1:p.Val89Ala
ENST00000229335.11:c.233T>C MANE Select	ENSP00000229335.6:p.Val78Ala
ENST00000229335.10:c.233T>C	ENSP00000229335.6:p.Val78Ala
ENST00000537228.5:c.233T>C	ENSP00000445691.1:p.Val78Ala
ENST00000543081.5:c.229T>C
ENST00000544516.5:c.153-1072T>C
ENST00000545512.1:c.229T>C
ENST00000545576.1:n.267T>C
NM_020661.2:c.233T>C , LRG_17t1:c.233T>C	NP_065712.1:p.Val78Ala
XM_011520772.1:c.233T>C	XP_011519074.1:p.Val78Ala
XM_011520773.1:c.233T>C	XP_011519075.1:p.Val78Ala
NM_001330343.1:c.233T>C	NP_001317272.1:p.Val78Ala
NM_020661.3:c.233T>C	NP_065712.1:p.Val78Ala
XM_011520773.2:c.233T>C	XP_011519075.1:p.Val78Ala
NM_020661.4:c.233T>C MANE Select	NP_065712.1:p.Val78Ala
NM_001330343.2:c.233T>C	NP_001317272.1:p.Val78Ala