Canonical Allele Identifier: CA382628033

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112104197G>T (hg19) ; chr11:g.112233474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233474G>T , CM000673.2:g.112233474G>T	GRCh38
NC_000011.9:g.112104197G>T , CM000673.1:g.112104197G>T	GRCh37
NC_000011.8:g.111609407G>T	NCBI36
NG_008743.1:g.12110G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.357G>T MANE Select	ENSP00000280362.3:p.Gln119His
ENST00000280362.7:c.357G>T	ENSP00000280362.3:p.Gln119His
ENST00000524931.1:c.153G>T	ENSP00000434688.1:p.Gln51His
ENST00000525803.1:c.*91G>T	ENSP00000431750.1:n.*91G>T
ENST00000527428.5:n.488+241G>T
ENST00000527635.1:n.398G>T
ENST00000528679.5:c.*166G>T	ENSP00000435895.1:n.*166G>T
ENST00000531673.5:c.*123+241G>T	ENSP00000433469.1:n.*123+241G>T
NM_000317.2:c.357G>T	NP_000308.1:p.Gln119His
XM_011542943.1:c.318G>T	XP_011541245.1:p.Gln106His
NM_000317.3:c.357G>T MANE Select	NP_000308.1:p.Gln119His