Canonical Allele Identifier: CA6278478
Gene: PTS HGNC NCBI

Linked Data

ClinVar Variation Id: 663940
ClinVar RCV Id: RCV000821922
dbSNP Id: rs780284884
ExAC: 11:112099384 C / T
gnomAD v2: 11-112099384-C-T
gnomAD v3: 11-112228661-C-T
gnomAD v4: 11-112228661-C-T
COSMIC: COSM6042599
MyVariant Identifiers: chr11:g.112099384C>T (hg19) chr11:g.112228661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228661C>T , CM000673.2:g.112228661C>T GRCh38
NC_000011.9:g.112099384C>T , CM000673.1:g.112099384C>T GRCh37
NC_000011.8:g.111604594C>T NCBI36
NG_008743.1:g.7297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000280362.8:c.151C>T MANE Select ENSP00000280362.3:p.His51Tyr
ENST00000280362.7:c.151C>T ENSP00000280362.3:p.His51Tyr
ENST00000524931.1:c.-54C>T ENSP00000434688.1:n.-54C>T
ENST00000525645.1:n.226C>T
ENST00000525803.1:c.151C>T ENSP00000431750.1:p.His51Tyr
ENST00000528679.5:c.151C>T ENSP00000435895.1:p.His51Tyr
ENST00000531673.5:c.151C>T ENSP00000433469.1:p.His51Tyr
NM_000317.2:c.151C>T NP_000308.1:p.His51Tyr
NM_000317.3:c.151C>T MANE Select NP_000308.1:p.His51Tyr
Search 100 bp 5'
Search 100 bp 3'