Canonical Allele Identifier: CA382627516

Gene: PTS

Linked Data

• dbSNP Id: rs1781758667
• gnomAD v3: 11-112230211-T-G
• gnomAD v4: 11-112230211-T-G
• MyVariant Identifiers: chr11:g.112100934T>G (hg19) ; chr11:g.112230211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230211T>G , CM000673.2:g.112230211T>G	GRCh38
NC_000011.9:g.112100934T>G , CM000673.1:g.112100934T>G	GRCh37
NC_000011.8:g.111606144T>G	NCBI36
NG_008743.1:g.8847T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.167T>G MANE Select	ENSP00000280362.3:p.Val56Gly
ENST00000280362.7:c.167T>G	ENSP00000280362.3:p.Val56Gly
ENST00000524931.1:c.-38T>G	ENSP00000434688.1:n.-38T>G
ENST00000525803.1:c.163+1538T>G	ENSP00000431750.1:n.163+1538T>G
ENST00000528679.5:c.164-415T>G	ENSP00000435895.1:n.164-415T>G
ENST00000531175.1:n.118T>G
ENST00000531673.5:c.164-415T>G	ENSP00000433469.1:n.164-415T>G
NM_000317.2:c.167T>G	NP_000308.1:p.Val56Gly
XM_011542943.1:c.128T>G	XP_011541245.1:p.Val43Gly
NM_000317.3:c.167T>G MANE Select	NP_000308.1:p.Val56Gly