Canonical Allele Identifier: CA478447702
Gene: AICDA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.8759470A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8606874A>C , CM000674.2:g.8606874A>C GRCh38
NC_000012.11:g.8759470A>C , CM000674.1:g.8759470A>C GRCh37
NC_000012.10:g.8650737A>C NCBI36
NG_011588.1:g.10973T>G , LRG_17:g.10973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000537228.6:c.147T>G ENSP00000445691.1:p.Leu49=
ENST00000543081.6:c.147T>G ENSP00000439103.2:p.Leu49=
ENST00000544516.6:c.147T>G ENSP00000439538.2:p.Leu49=
ENST00000545576.2:n.256T>G
ENST00000696246.1:c.132T>G ENSP00000512504.1:p.Leu44=
ENST00000696271.1:n.267T>G
ENST00000696272.1:c.132T>G ENSP00000512515.1:p.Leu44=
ENST00000696273.1:c.180T>G ENSP00000512516.1:p.Leu60=
ENST00000229335.11:c.147T>G MANE Select ENSP00000229335.6:p.Leu49=
ENST00000229335.10:c.147T>G ENSP00000229335.6:p.Leu49=
ENST00000537228.5:c.147T>G ENSP00000445691.1:p.Leu49=
ENST00000543081.5:c.143T>G
ENST00000544516.5:c.143T>G
ENST00000545512.1:c.143T>G
ENST00000545576.1:n.181T>G
NM_020661.2:c.147T>G , LRG_17t1:c.147T>G NP_065712.1:p.Leu49=
XM_011520772.1:c.147T>G XP_011519074.1:p.Leu49=
XM_011520773.1:c.147T>G XP_011519075.1:p.Leu49=
NM_001330343.1:c.147T>G NP_001317272.1:p.Leu49=
NM_020661.3:c.147T>G NP_065712.1:p.Leu49=
XM_011520773.2:c.147T>G XP_011519075.1:p.Leu49=
NM_020661.4:c.147T>G MANE Select NP_065712.1:p.Leu49=
NM_001330343.2:c.147T>G NP_001317272.1:p.Leu49=