Canonical Allele Identifier: CA382628031

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112104196A>T (hg19) ; chr11:g.112233473A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233473A>T , CM000673.2:g.112233473A>T	GRCh38
NC_000011.9:g.112104196A>T , CM000673.1:g.112104196A>T	GRCh37
NC_000011.8:g.111609406A>T	NCBI36
NG_008743.1:g.12109A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.356A>T MANE Select	ENSP00000280362.3:p.Gln119Leu
ENST00000280362.7:c.356A>T	ENSP00000280362.3:p.Gln119Leu
ENST00000524931.1:c.152A>T	ENSP00000434688.1:p.Gln51Leu
ENST00000525803.1:c.*90A>T	ENSP00000431750.1:n.*90A>T
ENST00000527428.5:n.488+240A>T
ENST00000527635.1:n.397A>T
ENST00000528679.5:c.*165A>T	ENSP00000435895.1:n.*165A>T
ENST00000531673.5:c.*123+240A>T	ENSP00000433469.1:n.*123+240A>T
NM_000317.2:c.356A>T	NP_000308.1:p.Gln119Leu
XM_011542943.1:c.317A>T	XP_011541245.1:p.Gln106Leu
NM_000317.3:c.356A>T MANE Select	NP_000308.1:p.Gln119Leu