Canonical Allele Identifier: CA602134616

Gene: PTS

Linked Data

• dbSNP Id: rs915669792
• gnomAD v2: 11-112104029-G-T
• gnomAD v3: 11-112233306-G-T
• gnomAD v4: 11-112233306-G-T
• MyVariant Identifiers: chr11:g.112104029G>T (hg19) ; chr11:g.112233306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233306G>T , CM000673.2:g.112233306G>T	GRCh38
NC_000011.9:g.112104029G>T , CM000673.1:g.112104029G>T	GRCh37
NC_000011.8:g.111609239G>T	NCBI36
NG_008743.1:g.11942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+73G>T MANE Select	ENSP00000280362.3:n.314+73G>T
ENST00000280362.7:c.314+73G>T	ENSP00000280362.3:n.314+73G>T
ENST00000524931.1:c.110+73G>T	ENSP00000434688.1:n.110+73G>T
ENST00000525803.1:c.*48+73G>T	ENSP00000431750.1:n.*48+73G>T
ENST00000527428.5:n.488+73G>T
ENST00000527635.1:n.355+73G>T
ENST00000528679.5:c.*123+73G>T	ENSP00000435895.1:n.*123+73G>T
ENST00000531175.1:n.338G>T
ENST00000531673.5:c.*123+73G>T	ENSP00000433469.1:n.*123+73G>T
NM_000317.2:c.314+73G>T	NP_000308.1:n.314+73G>T
XM_011542943.1:c.275+73G>T	XP_011541245.1:n.275+73G>T
NM_000317.3:c.314+73G>T MANE Select	NP_000308.1:n.314+73G>T