Canonical Allele Identifier: CA2000619791

Gene: PTS

Linked Data

• dbSNP Id: rs1859963010
• gnomAD v4: 11-112233148-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233148T>C , CM000673.2:g.112233148T>C	GRCh38
NC_000011.9:g.112103871T>C , CM000673.1:g.112103871T>C	GRCh37
NC_000011.8:g.111609081T>C	NCBI36
NG_008743.1:g.11784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.244-15T>C MANE Select	ENSP00000280362.3:n.244-15T>C
ENST00000280362.7:c.244-15T>C	ENSP00000280362.3:n.244-15T>C
ENST00000524931.1:c.40-15T>C	ENSP00000434688.1:n.40-15T>C
ENST00000525803.1:c.164-15T>C	ENSP00000431750.1:n.164-15T>C
ENST00000527428.5:n.418-15T>C
ENST00000527635.1:n.285-15T>C
ENST00000528679.5:c.*53-15T>C	ENSP00000435895.1:n.*53-15T>C
ENST00000531175.1:n.195-15T>C
ENST00000531673.5:c.*53-15T>C	ENSP00000433469.1:n.*53-15T>C
NM_000317.2:c.244-15T>C	NP_000308.1:n.244-15T>C
XM_011542943.1:c.205-15T>C	XP_011541245.1:n.205-15T>C
NM_000317.3:c.244-15T>C MANE Select	NP_000308.1:n.244-15T>C