Canonical Allele Identifier: CA671775350

Gene: PTS

Linked Data

• dbSNP Id: rs909533815
• gnomAD v4: 11-112233302-G-T
• MyVariant Identifiers: chr11:g.112104025G>T (hg19) ; chr11:g.112233302G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233302G>T , CM000673.2:g.112233302G>T	GRCh38
NC_000011.9:g.112104025G>T , CM000673.1:g.112104025G>T	GRCh37
NC_000011.8:g.111609235G>T	NCBI36
NG_008743.1:g.11938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+69G>T MANE Select	ENSP00000280362.3:n.314+69G>T
ENST00000280362.7:c.314+69G>T	ENSP00000280362.3:n.314+69G>T
ENST00000524931.1:c.110+69G>T	ENSP00000434688.1:n.110+69G>T
ENST00000525803.1:c.*48+69G>T	ENSP00000431750.1:n.*48+69G>T
ENST00000527428.5:n.488+69G>T
ENST00000527635.1:n.355+69G>T
ENST00000528679.5:c.*123+69G>T	ENSP00000435895.1:n.*123+69G>T
ENST00000531175.1:n.334G>T
ENST00000531673.5:c.*123+69G>T	ENSP00000433469.1:n.*123+69G>T
NM_000317.2:c.314+69G>T	NP_000308.1:n.314+69G>T
XM_011542943.1:c.275+69G>T	XP_011541245.1:n.275+69G>T
NM_000317.3:c.314+69G>T MANE Select	NP_000308.1:n.314+69G>T