Canonical Allele Identifier: CA478530420

Gene: AICDA

Linked Data

• gnomAD v4: 12-8605342-C-T
• COSMIC: COSM3466206
• MyVariant Identifiers: chr12:g.8757938C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605342C>T , CM000674.2:g.8605342C>T	GRCh38
NC_000012.11:g.8757938C>T , CM000674.1:g.8757938C>T	GRCh37
NC_000012.10:g.8649205C>T	NCBI36
NG_011588.1:g.12505G>A , LRG_17:g.12505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.300G>A	ENSP00000445691.1:p.Gly100=
ENST00000543081.6:c.300G>A	ENSP00000439103.2:p.Gly100=
ENST00000544516.6:c.157-1005G>A	ENSP00000439538.2:n.157-1005G>A
ENST00000545576.2:n.409G>A
ENST00000696246.1:c.285G>A	ENSP00000512504.1:p.Gly95=
ENST00000696271.1:n.420G>A
ENST00000696272.1:c.285G>A	ENSP00000512515.1:p.Gly95=
ENST00000696273.1:c.333G>A	ENSP00000512516.1:p.Gly111=
ENST00000229335.11:c.300G>A MANE Select	ENSP00000229335.6:p.Gly100=
ENST00000229335.10:c.300G>A	ENSP00000229335.6:p.Gly100=
ENST00000537228.5:c.300G>A	ENSP00000445691.1:p.Gly100=
ENST00000543081.5:c.296G>A
ENST00000544516.5:c.153-1005G>A
ENST00000545512.1:c.296G>A
ENST00000545576.1:n.334G>A
NM_020661.2:c.300G>A , LRG_17t1:c.300G>A	NP_065712.1:p.Gly100=
XM_011520772.1:c.300G>A	XP_011519074.1:p.Gly100=
XM_011520773.1:c.300G>A	XP_011519075.1:p.Gly100=
NM_001330343.1:c.300G>A	NP_001317272.1:p.Gly100=
NM_020661.3:c.300G>A	NP_065712.1:p.Gly100=
XM_011520773.2:c.300G>A	XP_011519075.1:p.Gly100=
NM_020661.4:c.300G>A MANE Select	NP_065712.1:p.Gly100=
NM_001330343.2:c.300G>A	NP_001317272.1:p.Gly100=