Canonical Allele Identifier: CA476797216

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112097226C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112226503C>T , CM000673.2:g.112226503C>T	GRCh38
NC_000011.9:g.112097226C>T , CM000673.1:g.112097226C>T	GRCh37
NC_000011.8:g.111602436C>T	NCBI36
NG_008743.1:g.5139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.60C>T MANE Select	ENSP00000280362.3:p.Phe20=
ENST00000280362.7:c.60C>T	ENSP00000280362.3:p.Phe20=
ENST00000525645.1:n.135C>T
ENST00000525803.1:c.60C>T	ENSP00000431750.1:p.Phe20=
ENST00000528679.5:c.60C>T	ENSP00000435895.1:p.Phe20=
ENST00000531673.5:c.60C>T	ENSP00000433469.1:p.Phe20=
NM_000317.2:c.60C>T	NP_000308.1:p.Phe20=
NM_000317.3:c.60C>T MANE Select	NP_000308.1:p.Phe20=