Canonical Allele Identifier: CA382627760

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112103889G>T (hg19) ; chr11:g.112233166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233166G>T , CM000673.2:g.112233166G>T	GRCh38
NC_000011.9:g.112103889G>T , CM000673.1:g.112103889G>T	GRCh37
NC_000011.8:g.111609099G>T	NCBI36
NG_008743.1:g.11802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.247G>T MANE Select	ENSP00000280362.3:p.Ala83Ser
ENST00000280362.7:c.247G>T	ENSP00000280362.3:p.Ala83Ser
ENST00000524931.1:c.43G>T	ENSP00000434688.1:p.Ala15Ser
ENST00000525803.1:c.167G>T	ENSP00000431750.1:p.Gly56Val
ENST00000527428.5:n.421G>T
ENST00000527635.1:n.288G>T
ENST00000528679.5:c.*56G>T	ENSP00000435895.1:n.*56G>T
ENST00000531175.1:n.198G>T
ENST00000531673.5:c.*56G>T	ENSP00000433469.1:n.*56G>T
NM_000317.2:c.247G>T	NP_000308.1:p.Ala83Ser
XM_011542943.1:c.208G>T	XP_011541245.1:p.Ala70Ser
NM_000317.3:c.247G>T MANE Select	NP_000308.1:p.Ala83Ser