Canonical Allele Identifier: CA6434453

Gene: AICDA

Linked Data

• dbSNP Id: rs779320562
• ExAC: 12:8757944 C / T
• gnomAD v2: 12-8757944-C-T
• gnomAD v3: 12-8605348-C-T
• gnomAD v4: 12-8605348-C-T
• MyVariant Identifiers: chr12:g.8757944C>T (hg19) ; chr12:g.8605348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605348C>T , CM000674.2:g.8605348C>T	GRCh38
NC_000012.11:g.8757944C>T , CM000674.1:g.8757944C>T	GRCh37
NC_000012.10:g.8649211C>T	NCBI36
NG_011588.1:g.12499G>A , LRG_17:g.12499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.294G>A	ENSP00000445691.1:p.Leu98=
ENST00000543081.6:c.294G>A	ENSP00000439103.2:p.Leu98=
ENST00000544516.6:c.157-1011G>A	ENSP00000439538.2:n.157-1011G>A
ENST00000545576.2:n.403G>A
ENST00000696246.1:c.279G>A	ENSP00000512504.1:p.Leu93=
ENST00000696271.1:n.414G>A
ENST00000696272.1:c.279G>A	ENSP00000512515.1:p.Leu93=
ENST00000696273.1:c.327G>A	ENSP00000512516.1:p.Leu109=
ENST00000229335.11:c.294G>A MANE Select	ENSP00000229335.6:p.Leu98=
ENST00000229335.10:c.294G>A	ENSP00000229335.6:p.Leu98=
ENST00000537228.5:c.294G>A	ENSP00000445691.1:p.Leu98=
ENST00000543081.5:c.290G>A
ENST00000544516.5:c.153-1011G>A
ENST00000545512.1:c.290G>A
ENST00000545576.1:n.328G>A
NM_020661.2:c.294G>A , LRG_17t1:c.294G>A	NP_065712.1:p.Leu98=
XM_011520772.1:c.294G>A	XP_011519074.1:p.Leu98=
XM_011520773.1:c.294G>A	XP_011519075.1:p.Leu98=
NM_001330343.1:c.294G>A	NP_001317272.1:p.Leu98=
NM_020661.3:c.294G>A	NP_065712.1:p.Leu98=
XM_011520773.2:c.294G>A	XP_011519075.1:p.Leu98=
NM_020661.4:c.294G>A MANE Select	NP_065712.1:p.Leu98=
NM_001330343.2:c.294G>A	NP_001317272.1:p.Leu98=