Canonical Allele Identifier: CA114318

Gene: PTS

Linked Data

• ClinVar Variation Id: 479
• ClinVar RCV Id: RCV000000508 ; RCV003156211 ; RCV003924789
• dbSNP Id: rs104894275
• ExAC: 11:112099388 A / G
• gnomAD v2: 11-112099388-A-G
• gnomAD v3: 11-112228665-A-G
• gnomAD v4: 11-112228665-A-G
• MyVariant Identifiers: chr11:g.112099388A>G (hg19) ; chr11:g.112228665A>G (hg38)
• PubMed: PMID:9450907

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228665A>G , CM000673.2:g.112228665A>G	GRCh38
NC_000011.9:g.112099388A>G , CM000673.1:g.112099388A>G	GRCh37
NC_000011.8:g.111604598A>G	NCBI36
NG_008743.1:g.7301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.155A>G MANE Select	ENSP00000280362.3:p.Asn52Ser
ENST00000280362.7:c.155A>G	ENSP00000280362.3:p.Asn52Ser
ENST00000524931.1:c.-50A>G	ENSP00000434688.1:n.-50A>G
ENST00000525645.1:n.230A>G
ENST00000525803.1:c.155A>G	ENSP00000431750.1:p.Asn52Ser
ENST00000528679.5:c.155A>G	ENSP00000435895.1:p.Asn52Ser
ENST00000531673.5:c.155A>G	ENSP00000433469.1:p.Asn52Ser
NM_000317.2:c.155A>G	NP_000308.1:p.Asn52Ser
NM_000317.3:c.155A>G MANE Select	NP_000308.1:p.Asn52Ser