Canonical Allele Identifier: CA383817421

Gene: AICDA

Linked Data

• dbSNP Id: rs781033438
• gnomAD v3: 12-8604821-G-A
• gnomAD v4: 12-8604821-G-A
• MyVariant Identifiers: chr12:g.8757417G>A (hg19) ; chr12:g.8604821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604821G>A , CM000674.2:g.8604821G>A	GRCh38
NC_000012.11:g.8757417G>A , CM000674.1:g.8757417G>A	GRCh37
NC_000012.10:g.8648684G>A	NCBI36
NG_011588.1:g.13026C>T , LRG_17:g.13026C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.499C>T	ENSP00000445691.1:p.Arg167Trp
ENST00000543081.6:c.427+394C>T	ENSP00000439103.2:n.427+394C>T
ENST00000544516.6:c.157-484C>T	ENSP00000439538.2:n.157-484C>T
ENST00000545576.2:n.930C>T
ENST00000696246.1:c.484C>T	ENSP00000512504.1:p.Arg162Trp
ENST00000696271.1:n.941C>T
ENST00000696272.1:c.514C>T	ENSP00000512515.1:p.Arg172Trp
ENST00000696273.1:c.562C>T	ENSP00000512516.1:p.Arg188Trp
ENST00000229335.11:c.529C>T MANE Select	ENSP00000229335.6:p.Arg177Trp
ENST00000229335.10:c.529C>T	ENSP00000229335.6:p.Arg177Trp
ENST00000537228.5:c.499C>T	ENSP00000445691.1:p.Arg167Trp
ENST00000543081.5:c.423+394C>T
ENST00000544516.5:c.153-484C>T
ENST00000545512.1:c.525C>T
ENST00000545576.1:n.855C>T
NM_020661.2:c.529C>T , LRG_17t1:c.529C>T	NP_065712.1:p.Arg177Trp
XM_011520772.1:c.499C>T	XP_011519074.1:p.Arg167Trp
XM_011520773.1:c.427+394C>T	XP_011519075.1:n.427+394C>T
NM_001330343.1:c.499C>T	NP_001317272.1:p.Arg167Trp
NM_020661.3:c.529C>T	NP_065712.1:p.Arg177Trp
XM_011520773.2:c.427+394C>T	XP_011519075.1:n.427+394C>T
NM_020661.4:c.529C>T MANE Select	NP_065712.1:p.Arg177Trp
NM_001330343.2:c.499C>T	NP_001317272.1:p.Arg167Trp