Canonical Allele Identifier: CA478291387
Gene: AICDA HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.8757418A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8604822A>C , CM000674.2:g.8604822A>C GRCh38
NC_000012.11:g.8757418A>C , CM000674.1:g.8757418A>C GRCh37
NC_000012.10:g.8648685A>C NCBI36
NG_011588.1:g.13025T>G , LRG_17:g.13025T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000537228.6:c.498T>G ENSP00000445691.1:p.Leu166=
ENST00000543081.6:c.427+393T>G ENSP00000439103.2:n.427+393T>G
ENST00000544516.6:c.157-485T>G ENSP00000439538.2:n.157-485T>G
ENST00000545576.2:n.929T>G
ENST00000696246.1:c.483T>G ENSP00000512504.1:p.Leu161=
ENST00000696271.1:n.940T>G
ENST00000696272.1:c.513T>G ENSP00000512515.1:p.Leu171=
ENST00000696273.1:c.561T>G ENSP00000512516.1:p.Leu187=
ENST00000229335.11:c.528T>G MANE Select ENSP00000229335.6:p.Leu176=
ENST00000229335.10:c.528T>G ENSP00000229335.6:p.Leu176=
ENST00000537228.5:c.498T>G ENSP00000445691.1:p.Leu166=
ENST00000543081.5:c.423+393T>G
ENST00000544516.5:c.153-485T>G
ENST00000545512.1:c.524T>G
ENST00000545576.1:n.854T>G
NM_020661.2:c.528T>G , LRG_17t1:c.528T>G NP_065712.1:p.Leu176=
XM_011520772.1:c.498T>G XP_011519074.1:p.Leu166=
XM_011520773.1:c.427+393T>G XP_011519075.1:n.427+393T>G
NM_001330343.1:c.498T>G NP_001317272.1:p.Leu166=
NM_020661.3:c.528T>G NP_065712.1:p.Leu176=
XM_011520773.2:c.427+393T>G XP_011519075.1:n.427+393T>G
NM_020661.4:c.528T>G MANE Select NP_065712.1:p.Leu176=
NM_001330343.2:c.498T>G NP_001317272.1:p.Leu166=