Canonical Allele Identifier: CA601757828

Gene: PTS

Linked Data

• dbSNP Id: rs1356305127
• gnomAD v2: 11-112101005-C-G
• gnomAD v4: 11-112230282-C-G
• MyVariant Identifiers: chr11:g.112101005C>G (hg19) ; chr11:g.112230282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230282C>G , CM000673.2:g.112230282C>G	GRCh38
NC_000011.9:g.112101005C>G , CM000673.1:g.112101005C>G	GRCh37
NC_000011.8:g.111606215C>G	NCBI36
NG_008743.1:g.8918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.186+52C>G MANE Select	ENSP00000280362.3:n.186+52C>G
ENST00000280362.7:c.186+52C>G	ENSP00000280362.3:n.186+52C>G
ENST00000524931.1:c.-19+52C>G	ENSP00000434688.1:n.-19+52C>G
ENST00000525803.1:c.163+1609C>G	ENSP00000431750.1:n.163+1609C>G
ENST00000527428.5:n.17C>G
ENST00000528679.5:c.164-344C>G	ENSP00000435895.1:n.164-344C>G
ENST00000531175.1:n.137+52C>G
ENST00000531673.5:c.164-344C>G	ENSP00000433469.1:n.164-344C>G
NM_000317.2:c.186+52C>G	NP_000308.1:n.186+52C>G
XM_011542943.1:c.147+52C>G	XP_011541245.1:n.147+52C>G
NM_000317.3:c.186+52C>G MANE Select	NP_000308.1:n.186+52C>G