Canonical Allele Identifier: CA384013463
Gene: ART4 HGNC NCBI
C12orf60 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14840792A>C , CM000674.2:g.14840792A>C GRCh38
NC_000012.11:g.14993726A>C , CM000674.1:g.14993726A>C GRCh37
NC_000012.10:g.14884993A>C NCBI36
NG_007477.2:g.7688T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000228936.6:c.506T>G (ART4) MANE Select ENSP00000228936.4:p.Leu169Arg
ENST00000648334.1:n.125+11113A>C (C12orf60)
ENST00000228936.4:c.506T>G (ART4) ENSP00000228936.4:p.Leu169Arg
ENST00000420600.1:c.455T>G (ART4) ENSP00000405689.1:p.Leu152Arg
ENST00000430129.6:c.165+290T>G (ART4) ENSP00000412735.2:n.165+290T>G
ENST00000527783.1:n.75+37041A>C (C12orf60)
ENST00000533472.1:n.86+37041A>C (C12orf60)
ENST00000544616.5:c.93+2178T>G (ART4) ENSP00000442877.1:n.93+2178T>G
NM_021071.2:c.506T>G (ART4) NP_066549.2:p.Leu169Arg
NM_001354646.1:c.506T>G (ART4) NP_001341575.1:p.Leu169Arg
NM_021071.3:c.506T>G (ART4) NP_066549.2:p.Leu169Arg
NM_021071.4:c.506T>G (ART4) MANE Select NP_066549.2:p.Leu169Arg
NM_001354646.2:c.506T>G (ART4) NP_001341575.1:p.Leu169Arg