Canonical Allele Identifier: CA6434447

Gene: AICDA

Linked Data

• dbSNP Id: rs753271243
• ExAC: 12:8757922 G / A
• gnomAD v2: 12-8757922-G-A
• gnomAD v4: 12-8605326-G-A
• MyVariant Identifiers: chr12:g.8757922G>A (hg19) ; chr12:g.8605326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605326G>A , CM000674.2:g.8605326G>A	GRCh38
NC_000012.11:g.8757922G>A , CM000674.1:g.8757922G>A	GRCh37
NC_000012.10:g.8649189G>A	NCBI36
NG_011588.1:g.12521C>T , LRG_17:g.12521C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.316C>T	ENSP00000445691.1:p.Leu106=
ENST00000543081.6:c.316C>T	ENSP00000439103.2:p.Leu106=
ENST00000544516.6:c.157-989C>T	ENSP00000439538.2:n.157-989C>T
ENST00000545576.2:n.425C>T
ENST00000696246.1:c.301C>T	ENSP00000512504.1:p.Leu101=
ENST00000696271.1:n.436C>T
ENST00000696272.1:c.301C>T	ENSP00000512515.1:p.Leu101=
ENST00000696273.1:c.349C>T	ENSP00000512516.1:p.Leu117=
ENST00000229335.11:c.316C>T MANE Select	ENSP00000229335.6:p.Leu106=
ENST00000229335.10:c.316C>T	ENSP00000229335.6:p.Leu106=
ENST00000537228.5:c.316C>T	ENSP00000445691.1:p.Leu106=
ENST00000543081.5:c.312C>T
ENST00000544516.5:c.153-989C>T
ENST00000545512.1:c.312C>T
ENST00000545576.1:n.350C>T
NM_020661.2:c.316C>T , LRG_17t1:c.316C>T	NP_065712.1:p.Leu106=
XM_011520772.1:c.316C>T	XP_011519074.1:p.Leu106=
XM_011520773.1:c.316C>T	XP_011519075.1:p.Leu106=
NM_001330343.1:c.316C>T	NP_001317272.1:p.Leu106=
NM_020661.3:c.316C>T	NP_065712.1:p.Leu106=
XM_011520773.2:c.316C>T	XP_011519075.1:p.Leu106=
NM_020661.4:c.316C>T MANE Select	NP_065712.1:p.Leu106=
NM_001330343.2:c.316C>T	NP_001317272.1:p.Leu106=