Canonical Allele Identifier: CA114318
Gene: PTS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 479
ClinVar RCV Id: RCV000000508
dbSNP Id: rs104894275

User contributed link-outs

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
NM_000317.2:c.155A>G VV NP_000308.1:p.Asn52Ser
NM_000317.3:c.155A>G VV MANE Preferred NP_000308.1:p.Asn52Ser
ENST00000280362.7:c.155A>G ENSP00000280362.3:p.Asn52Ser
ENST00000524931.1:c.-50A>G ENSP00000434688.1:p.=
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