Canonical Allele Identifier: CA6278500
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 732899
ClinVar RCV Id: RCV000908106
dbSNP Id: rs745627441
ExAC: 11:112100941 A / G
gnomAD v2: 11-112100941-A-G
gnomAD v3: 11-112230218-A-G
gnomAD v4: 11-112230218-A-G
MyVariant Identifiers: chr11:g.112100941A>G (hg19) chr11:g.112230218A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112230218A>G , CM000673.2:g.112230218A>G GRCh38
NC_000011.9:g.112100941A>G , CM000673.1:g.112100941A>G GRCh37
NC_000011.8:g.111606151A>G NCBI36
NG_008743.1:g.8854A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.174A>G MANE Select ENSP00000280362.3:p.Thr58=
ENST00000280362.7:c.174A>G ENSP00000280362.3:p.Thr58=
ENST00000524931.1:c.-31A>G ENSP00000434688.1:n.-31A>G
ENST00000525803.1:c.163+1545A>G ENSP00000431750.1:n.163+1545A>G
ENST00000528679.5:c.164-408A>G ENSP00000435895.1:n.164-408A>G
ENST00000531175.1:n.125A>G
ENST00000531673.5:c.164-408A>G ENSP00000433469.1:n.164-408A>G
NM_000317.2:c.174A>G NP_000308.1:p.Thr58=
XM_011542943.1:c.135A>G XP_011541245.1:p.Thr45=
NM_000317.3:c.174A>G MANE Select NP_000308.1:p.Thr58=
Search 100 bp 5'
Search 100 bp 3'