Canonical Allele Identifier: CA382627000
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 3061790
ClinVar RCV Id: RCV003983773
dbSNP Id: rs1449216377
gnomAD v3: 11-112228618-C-A
gnomAD v4: 11-112228618-C-A
COSMIC: COSM5954976
MyVariant Identifiers: chr11:g.112099341C>A (hg19) chr11:g.112228618C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228618C>A , CM000673.2:g.112228618C>A GRCh38
NC_000011.9:g.112099341C>A , CM000673.1:g.112099341C>A GRCh37
NC_000011.8:g.111604551C>A NCBI36
NG_008743.1:g.7254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.108C>A MANE Select ENSP00000280362.3:p.Asn36Lys
ENST00000280362.7:c.108C>A ENSP00000280362.3:p.Asn36Lys
ENST00000524931.1:c.-97C>A ENSP00000434688.1:n.-97C>A
ENST00000525645.1:n.183C>A
ENST00000525803.1:c.108C>A ENSP00000431750.1:p.Asn36Lys
ENST00000528679.5:c.108C>A ENSP00000435895.1:p.Asn36Lys
ENST00000531673.5:c.108C>A ENSP00000433469.1:p.Asn36Lys
NM_000317.2:c.108C>A NP_000308.1:p.Asn36Lys
NM_000317.3:c.108C>A MANE Select NP_000308.1:p.Asn36Lys
Search 100 bp 5'
Search 100 bp 3'