Canonical Allele Identifier: CA2739265998

Gene: PTS

Linked Data

• ClinVar Variation Id: 2891483
• ClinVar RCV Id: RCV003597937

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230244A>G , CM000673.2:g.112230244A>G	GRCh38
NC_000011.9:g.112100967A>G , CM000673.1:g.112100967A>G	GRCh37
NC_000011.8:g.111606177A>G	NCBI36
NG_008743.1:g.8880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+14A>G MANE Select	ENSP00000280362.3:n.186+14A>G
ENST00000280362.7:c.186+14A>G	ENSP00000280362.3:n.186+14A>G
ENST00000524931.1:c.-19+14A>G	ENSP00000434688.1:n.-19+14A>G
ENST00000525803.1:c.163+1571A>G	ENSP00000431750.1:n.163+1571A>G
ENST00000528679.5:c.164-382A>G	ENSP00000435895.1:n.164-382A>G
ENST00000531175.1:n.137+14A>G
ENST00000531673.5:c.164-382A>G	ENSP00000433469.1:n.164-382A>G
NM_000317.2:c.186+14A>G	NP_000308.1:n.186+14A>G
XM_011542943.1:c.147+14A>G	XP_011541245.1:n.147+14A>G
NM_000317.3:c.186+14A>G MANE Select	NP_000308.1:n.186+14A>G