Canonical Allele Identifier: CA478291371

Gene: AICDA

Linked Data

• gnomAD v4: 12-8604819-C-A
• MyVariant Identifiers: chr12:g.8757415C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604819C>A , CM000674.2:g.8604819C>A	GRCh38
NC_000012.11:g.8757415C>A , CM000674.1:g.8757415C>A	GRCh37
NC_000012.10:g.8648682C>A	NCBI36
NG_011588.1:g.13028G>T , LRG_17:g.13028G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.501G>T	ENSP00000445691.1:p.Arg167=
ENST00000543081.6:c.427+396G>T	ENSP00000439103.2:n.427+396G>T
ENST00000544516.6:c.157-482G>T	ENSP00000439538.2:n.157-482G>T
ENST00000545576.2:n.932G>T
ENST00000696246.1:c.486G>T	ENSP00000512504.1:p.Arg162=
ENST00000696271.1:n.943G>T
ENST00000696272.1:c.516G>T	ENSP00000512515.1:p.Arg172=
ENST00000696273.1:c.564G>T	ENSP00000512516.1:p.Arg188=
ENST00000229335.11:c.531G>T MANE Select	ENSP00000229335.6:p.Arg177=
ENST00000229335.10:c.531G>T	ENSP00000229335.6:p.Arg177=
ENST00000537228.5:c.501G>T	ENSP00000445691.1:p.Arg167=
ENST00000543081.5:c.423+396G>T
ENST00000544516.5:c.153-482G>T
ENST00000545512.1:c.527G>T
ENST00000545576.1:n.857G>T
NM_020661.2:c.531G>T , LRG_17t1:c.531G>T	NP_065712.1:p.Arg177=
XM_011520772.1:c.501G>T	XP_011519074.1:p.Arg167=
XM_011520773.1:c.427+396G>T	XP_011519075.1:n.427+396G>T
NM_001330343.1:c.501G>T	NP_001317272.1:p.Arg167=
NM_020661.3:c.531G>T	NP_065712.1:p.Arg177=
XM_011520773.2:c.427+396G>T	XP_011519075.1:n.427+396G>T
NM_020661.4:c.531G>T MANE Select	NP_065712.1:p.Arg177=
NM_001330343.2:c.501G>T	NP_001317272.1:p.Arg167=