Canonical Allele Identifier: CA383819220

Gene: AICDA

Linked Data

• ClinVar Variation Id: 2047339
• ClinVar RCV Id: RCV002926822
• MyVariant Identifiers: chr12:g.8758006C>G (hg19) ; chr12:g.8605410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605410C>G , CM000674.2:g.8605410C>G	GRCh38
NC_000012.11:g.8758006C>G , CM000674.1:g.8758006C>G	GRCh37
NC_000012.10:g.8649273C>G	NCBI36
NG_011588.1:g.12437G>C , LRG_17:g.12437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.232G>C	ENSP00000445691.1:p.Val78Leu
ENST00000543081.6:c.232G>C	ENSP00000439103.2:p.Val78Leu
ENST00000544516.6:c.157-1073G>C	ENSP00000439538.2:n.157-1073G>C
ENST00000545576.2:n.341G>C
ENST00000696246.1:c.217G>C	ENSP00000512504.1:p.Val73Leu
ENST00000696271.1:n.352G>C
ENST00000696272.1:c.217G>C	ENSP00000512515.1:p.Val73Leu
ENST00000696273.1:c.265G>C	ENSP00000512516.1:p.Val89Leu
ENST00000229335.11:c.232G>C MANE Select	ENSP00000229335.6:p.Val78Leu
ENST00000229335.10:c.232G>C	ENSP00000229335.6:p.Val78Leu
ENST00000537228.5:c.232G>C	ENSP00000445691.1:p.Val78Leu
ENST00000543081.5:c.228G>C
ENST00000544516.5:c.153-1073G>C
ENST00000545512.1:c.228G>C
ENST00000545576.1:n.266G>C
NM_020661.2:c.232G>C , LRG_17t1:c.232G>C	NP_065712.1:p.Val78Leu
XM_011520772.1:c.232G>C	XP_011519074.1:p.Val78Leu
XM_011520773.1:c.232G>C	XP_011519075.1:p.Val78Leu
NM_001330343.1:c.232G>C	NP_001317272.1:p.Val78Leu
NM_020661.3:c.232G>C	NP_065712.1:p.Val78Leu
XM_011520773.2:c.232G>C	XP_011519075.1:p.Val78Leu
NM_020661.4:c.232G>C MANE Select	NP_065712.1:p.Val78Leu
NM_001330343.2:c.232G>C	NP_001317272.1:p.Val78Leu