Canonical Allele Identifier: CA382627112

Gene: PTS

Linked Data

• dbSNP Id: rs747245062
• gnomAD v2: 11-112099386-C-A
• gnomAD v3: 11-112228663-C-A
• gnomAD v4: 11-112228663-C-A
• MyVariant Identifiers: chr11:g.112099386C>A (hg19) ; chr11:g.112228663C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228663C>A , CM000673.2:g.112228663C>A	GRCh38
NC_000011.9:g.112099386C>A , CM000673.1:g.112099386C>A	GRCh37
NC_000011.8:g.111604596C>A	NCBI36
NG_008743.1:g.7299C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.153C>A MANE Select	ENSP00000280362.3:p.His51Gln
ENST00000280362.7:c.153C>A	ENSP00000280362.3:p.His51Gln
ENST00000524931.1:c.-52C>A	ENSP00000434688.1:n.-52C>A
ENST00000525645.1:n.228C>A
ENST00000525803.1:c.153C>A	ENSP00000431750.1:p.His51Gln
ENST00000528679.5:c.153C>A	ENSP00000435895.1:p.His51Gln
ENST00000531673.5:c.153C>A	ENSP00000433469.1:p.His51Gln
NM_000317.2:c.153C>A	NP_000308.1:p.His51Gln
NM_000317.3:c.153C>A MANE Select	NP_000308.1:p.His51Gln