Canonical Allele Identifier: CA2573146810

Gene: PTS

Linked Data

• ClinVar Variation Id: 1603440
• ClinVar RCV Id: RCV002142036
• dbSNP Id: rs759579787
• gnomAD v4: 11-112233159-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233159C>T , CM000673.2:g.112233159C>T	GRCh38
NC_000011.9:g.112103882C>T , CM000673.1:g.112103882C>T	GRCh37
NC_000011.8:g.111609092C>T	NCBI36
NG_008743.1:g.11795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.244-4C>T MANE Select	ENSP00000280362.3:n.244-4C>T
ENST00000280362.7:c.244-4C>T	ENSP00000280362.3:n.244-4C>T
ENST00000524931.1:c.40-4C>T	ENSP00000434688.1:n.40-4C>T
ENST00000525803.1:c.164-4C>T	ENSP00000431750.1:n.164-4C>T
ENST00000527428.5:n.418-4C>T
ENST00000527635.1:n.285-4C>T
ENST00000528679.5:c.*53-4C>T	ENSP00000435895.1:n.*53-4C>T
ENST00000531175.1:n.195-4C>T
ENST00000531673.5:c.*53-4C>T	ENSP00000433469.1:n.*53-4C>T
NM_000317.2:c.244-4C>T	NP_000308.1:n.244-4C>T
XM_011542943.1:c.205-4C>T	XP_011541245.1:n.205-4C>T
NM_000317.3:c.244-4C>T MANE Select	NP_000308.1:n.244-4C>T