Canonical Allele Identifier: CA382628035

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112104198A>T (hg19) ; chr11:g.112233475A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233475A>T , CM000673.2:g.112233475A>T	GRCh38
NC_000011.9:g.112104198A>T , CM000673.1:g.112104198A>T	GRCh37
NC_000011.8:g.111609408A>T	NCBI36
NG_008743.1:g.12111A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.358A>T MANE Select	ENSP00000280362.3:p.Lys120Ter
ENST00000280362.7:c.358A>T	ENSP00000280362.3:p.Lys120Ter
ENST00000524931.1:c.154A>T	ENSP00000434688.1:p.Lys52Ter
ENST00000525803.1:c.*92A>T	ENSP00000431750.1:n.*92A>T
ENST00000527428.5:n.488+242A>T
ENST00000527635.1:n.399A>T
ENST00000528679.5:c.*167A>T	ENSP00000435895.1:n.*167A>T
ENST00000531673.5:c.*123+242A>T	ENSP00000433469.1:n.*123+242A>T
NM_000317.2:c.358A>T	NP_000308.1:p.Lys120Ter
XM_011542943.1:c.319A>T	XP_011541245.1:p.Lys107Ter
NM_000317.3:c.358A>T MANE Select	NP_000308.1:p.Lys120Ter