Canonical Allele Identifier: CA383817961

Gene: AICDA

Linked Data

• gnomAD v3: 12-8604907-C-A
• gnomAD v4: 12-8604907-C-A
• MyVariant Identifiers: chr12:g.8757503C>A (hg19) ; chr12:g.8604907C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604907C>A , CM000674.2:g.8604907C>A	GRCh38
NC_000012.11:g.8757503C>A , CM000674.1:g.8757503C>A	GRCh37
NC_000012.10:g.8648770C>A	NCBI36
NG_011588.1:g.12940G>T , LRG_17:g.12940G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.428-15G>T	ENSP00000445691.1:n.428-15G>T
ENST00000543081.6:c.427+308G>T	ENSP00000439103.2:n.427+308G>T
ENST00000544516.6:c.157-570G>T	ENSP00000439538.2:n.157-570G>T
ENST00000545576.2:n.844G>T
ENST00000696246.1:c.413-15G>T	ENSP00000512504.1:n.413-15G>T
ENST00000696271.1:n.855G>T
ENST00000696272.1:c.428G>T	ENSP00000512515.1:p.Trp143Leu
ENST00000696273.1:c.476G>T	ENSP00000512516.1:p.Trp159Leu
ENST00000229335.11:c.443G>T MANE Select	ENSP00000229335.6:p.Trp148Leu
ENST00000229335.10:c.443G>T	ENSP00000229335.6:p.Trp148Leu
ENST00000537228.5:c.428-15G>T	ENSP00000445691.1:n.428-15G>T
ENST00000543081.5:c.423+308G>T
ENST00000544516.5:c.153-570G>T
ENST00000545512.1:c.439G>T
ENST00000545576.1:n.769G>T
NM_020661.2:c.443G>T , LRG_17t1:c.443G>T	NP_065712.1:p.Trp148Leu
XM_011520772.1:c.428-15G>T	XP_011519074.1:n.428-15G>T
XM_011520773.1:c.427+308G>T	XP_011519075.1:n.427+308G>T
NM_001330343.1:c.428-15G>T	NP_001317272.1:n.428-15G>T
NM_020661.3:c.443G>T	NP_065712.1:p.Trp148Leu
XM_011520773.2:c.427+308G>T	XP_011519075.1:n.427+308G>T
NM_020661.4:c.443G>T MANE Select	NP_065712.1:p.Trp148Leu
NM_001330343.2:c.428-15G>T	NP_001317272.1:n.428-15G>T