Canonical Allele Identifier: CA114320
Gene: PTS HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.112230210G>A
GRCh37 chr11:g.112100933G>A
Revel Score:
ENST00000280362 (MANE Select) 0.729
gnomAD v2:
11:112100933 G / A
gnomAD v4:
chr11-112230210-G-A
Joint Max Group AF 0.00002977 (EAS)
Exomes Max Group AF 0.00003348 (EAS)
ClinVar RCV:
RCV000000510
ClinVar Variation:
481
dbSNP:
104894277
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112230210G>A , CM000673.2:g.112230210G>A GRCh38
NC_000011.9:g.112100933G>A , CM000673.1:g.112100933G>A GRCh37
NC_000011.8:g.111606143G>A NCBI36
NG_008743.1:g.8846G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.166G>A MANE Select ENSP00000280362.3:p.Val56Met
ENST00000280362.7:c.166G>A ENSP00000280362.3:p.Val56Met
ENST00000524931.1:c.-39G>A ENSP00000434688.1:n.-39G>A
ENST00000525803.1:c.163+1537G>A ENSP00000431750.1:n.163+1537G>A
ENST00000528679.5:c.164-416G>A ENSP00000435895.1:n.164-416G>A
ENST00000531175.1:n.117G>A
ENST00000531673.5:c.164-416G>A ENSP00000433469.1:n.164-416G>A
NM_000317.2:c.166G>A NP_000308.1:p.Val56Met
XM_011542943.1:c.127G>A XP_011541245.1:p.Val43Met
NM_000317.3:c.166G>A MANE Select NP_000308.1:p.Val56Met
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