Canonical Allele Identifier: CA6464962

Gene: ART4 C12orf60

Linked Data

• dbSNP Id: rs777317436
• ExAC: 12:14993689 C / G
• gnomAD v2: 12-14993689-C-G
• gnomAD v4: 12-14840755-C-G
• MyVariant Identifiers: chr12:g.14993689C>G (hg19) ; chr12:g.14840755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14840755C>G , CM000674.2:g.14840755C>G	GRCh38
NC_000012.11:g.14993689C>G , CM000674.1:g.14993689C>G	GRCh37
NC_000012.10:g.14884956C>G	NCBI36
NG_007477.2:g.7725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228936.6:c.543G>C (ART4) MANE Select	ENSP00000228936.4:p.Leu181=
ENST00000648334.1:n.125+11076C>G (C12orf60)
ENST00000228936.4:c.543G>C (ART4)	ENSP00000228936.4:p.Leu181=
ENST00000420600.1:c.492G>C (ART4)	ENSP00000405689.1:p.Leu164=
ENST00000430129.6:c.165+327G>C (ART4)	ENSP00000412735.2:n.165+327G>C
ENST00000527783.1:n.75+37004C>G (C12orf60)
ENST00000533472.1:n.86+37004C>G (C12orf60)
ENST00000544616.5:c.93+2215G>C (ART4)	ENSP00000442877.1:n.93+2215G>C
NM_021071.2:c.543G>C (ART4)	NP_066549.2:p.Leu181=
NM_001354646.1:c.543G>C (ART4)	NP_001341575.1:p.Leu181=
NM_021071.3:c.543G>C (ART4)	NP_066549.2:p.Leu181=
NM_021071.4:c.543G>C (ART4) MANE Select	NP_066549.2:p.Leu181=
NM_001354646.2:c.543G>C (ART4)	NP_001341575.1:p.Leu181=