Canonical Allele Identifier: CA382627887

Gene: PTS

Linked Data

• ClinVar Variation Id: 1303150
• ClinVar RCV Id: RCV001756649
• dbSNP Id: rs2135410321
• MyVariant Identifiers: chr11:g.112103940T>G (hg19) ; chr11:g.112233217T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233217T>G , CM000673.2:g.112233217T>G	GRCh38
NC_000011.9:g.112103940T>G , CM000673.1:g.112103940T>G	GRCh37
NC_000011.8:g.111609150T>G	NCBI36
NG_008743.1:g.11853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.298T>G MANE Select	ENSP00000280362.3:p.Phe100Val
ENST00000280362.7:c.298T>G	ENSP00000280362.3:p.Phe100Val
ENST00000524931.1:c.94T>G	ENSP00000434688.1:p.Phe32Val
ENST00000525803.1:c.*32T>G	ENSP00000431750.1:n.*32T>G
ENST00000527428.5:n.472T>G
ENST00000527635.1:n.339T>G
ENST00000528679.5:c.*107T>G	ENSP00000435895.1:n.*107T>G
ENST00000531175.1:n.249T>G
ENST00000531673.5:c.*107T>G	ENSP00000433469.1:n.*107T>G
NM_000317.2:c.298T>G	NP_000308.1:p.Phe100Val
XM_011542943.1:c.259T>G	XP_011541245.1:p.Phe87Val
NM_000317.3:c.298T>G MANE Select	NP_000308.1:p.Phe100Val