Canonical Allele Identifier: CA6465003

Gene: ART4 C12orf60

Linked Data

• dbSNP Id: rs753699386
• ExAC: 12:14993897 G / A
• gnomAD v2: 12-14993897-G-A
• gnomAD v3: 12-14840963-G-A
• gnomAD v4: 12-14840963-G-A
• MyVariant Identifiers: chr12:g.14993897G>A (hg19) ; chr12:g.14840963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14840963G>A , CM000674.2:g.14840963G>A	GRCh38
NC_000012.11:g.14993897G>A , CM000674.1:g.14993897G>A	GRCh37
NC_000012.10:g.14885164G>A	NCBI36
NG_007477.2:g.7517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228936.6:c.335C>T (ART4) MANE Select	ENSP00000228936.4:p.Pro112Leu
ENST00000648334.1:n.125+11284G>A (C12orf60)
ENST00000228936.4:c.335C>T (ART4)	ENSP00000228936.4:p.Pro112Leu
ENST00000420600.1:c.284C>T (ART4)	ENSP00000405689.1:p.Pro95Leu
ENST00000430129.6:c.165+119C>T (ART4)	ENSP00000412735.2:n.165+119C>T
ENST00000527783.1:n.75+37212G>A (C12orf60)
ENST00000533472.1:n.86+37212G>A (C12orf60)
ENST00000544616.5:c.93+2007C>T (ART4)	ENSP00000442877.1:n.93+2007C>T
NM_021071.2:c.335C>T (ART4)	NP_066549.2:p.Pro112Leu
NM_001354646.1:c.335C>T (ART4)	NP_001341575.1:p.Pro112Leu
NM_021071.3:c.335C>T (ART4)	NP_066549.2:p.Pro112Leu
NM_021071.4:c.335C>T (ART4) MANE Select	NP_066549.2:p.Pro112Leu
NM_001354646.2:c.335C>T (ART4)	NP_001341575.1:p.Pro112Leu