Canonical Allele Identifier: CA384014193

Gene: ART4 C12orf60

Linked Data

• ClinVar Variation Id: 2478813
• ClinVar RCV Id: RCV004271538
• gnomAD v4: 12-14841047-G-A
• MyVariant Identifiers: chr12:g.14993981G>A (hg19) ; chr12:g.14841047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14841047G>A , CM000674.2:g.14841047G>A	GRCh38
NC_000012.11:g.14993981G>A , CM000674.1:g.14993981G>A	GRCh37
NC_000012.10:g.14885248G>A	NCBI36
NG_007477.2:g.7433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228936.6:c.251C>T (ART4) MANE Select	ENSP00000228936.4:p.Thr84Ile
ENST00000648334.1:n.125+11368G>A (C12orf60)
ENST00000228936.4:c.251C>T (ART4)	ENSP00000228936.4:p.Thr84Ile
ENST00000420600.1:c.200C>T (ART4)	ENSP00000405689.1:p.Thr67Ile
ENST00000430129.6:c.165+35C>T (ART4)	ENSP00000412735.2:n.165+35C>T
ENST00000527783.1:n.75+37296G>A (C12orf60)
ENST00000533472.1:n.86+37296G>A (C12orf60)
ENST00000544616.5:c.93+1923C>T (ART4)	ENSP00000442877.1:n.93+1923C>T
NM_021071.2:c.251C>T (ART4)	NP_066549.2:p.Thr84Ile
NM_001354646.1:c.251C>T (ART4)	NP_001341575.1:p.Thr84Ile
NM_021071.3:c.251C>T (ART4)	NP_066549.2:p.Thr84Ile
NM_021071.4:c.251C>T (ART4) MANE Select	NP_066549.2:p.Thr84Ile
NM_001354646.2:c.251C>T (ART4)	NP_001341575.1:p.Thr84Ile