Canonical Allele Identifier: CA384013728

Gene: ART4 C12orf60

Linked Data

• dbSNP Id: rs1217065237
• gnomAD v2: 12-14993845-G-C
• gnomAD v4: 12-14840911-G-C
• MyVariant Identifiers: chr12:g.14993845G>C (hg19) ; chr12:g.14840911G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14840911G>C , CM000674.2:g.14840911G>C	GRCh38
NC_000012.11:g.14993845G>C , CM000674.1:g.14993845G>C	GRCh37
NC_000012.10:g.14885112G>C	NCBI36
NG_007477.2:g.7569C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228936.6:c.387C>G (ART4) MANE Select	ENSP00000228936.4:p.Asn129Lys
ENST00000648334.1:n.125+11232G>C (C12orf60)
ENST00000228936.4:c.387C>G (ART4)	ENSP00000228936.4:p.Asn129Lys
ENST00000420600.1:c.336C>G (ART4)	ENSP00000405689.1:p.Asn112Lys
ENST00000430129.6:c.165+171C>G (ART4)	ENSP00000412735.2:n.165+171C>G
ENST00000527783.1:n.75+37160G>C (C12orf60)
ENST00000533472.1:n.86+37160G>C (C12orf60)
ENST00000544616.5:c.93+2059C>G (ART4)	ENSP00000442877.1:n.93+2059C>G
NM_021071.2:c.387C>G (ART4)	NP_066549.2:p.Asn129Lys
NM_001354646.1:c.387C>G (ART4)	NP_001341575.1:p.Asn129Lys
NM_021071.3:c.387C>G (ART4)	NP_066549.2:p.Asn129Lys
NM_021071.4:c.387C>G (ART4) MANE Select	NP_066549.2:p.Asn129Lys
NM_001354646.2:c.387C>G (ART4)	NP_001341575.1:p.Asn129Lys