Canonical Allele Identifier: CA382627816

Gene: PTS

Linked Data

• dbSNP Id: rs1859964121
• gnomAD v3: 11-112233188-A-G
• gnomAD v4: 11-112233188-A-G
• MyVariant Identifiers: chr11:g.112103911A>G (hg19) ; chr11:g.112233188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233188A>G , CM000673.2:g.112233188A>G	GRCh38
NC_000011.9:g.112103911A>G , CM000673.1:g.112103911A>G	GRCh37
NC_000011.8:g.111609121A>G	NCBI36
NG_008743.1:g.11824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.269A>G MANE Select	ENSP00000280362.3:p.His90Arg
ENST00000280362.7:c.269A>G	ENSP00000280362.3:p.His90Arg
ENST00000524931.1:c.65A>G	ENSP00000434688.1:p.His22Arg
ENST00000525803.1:c.*3A>G	ENSP00000431750.1:n.*3A>G
ENST00000527428.5:n.443A>G
ENST00000527635.1:n.310A>G
ENST00000528679.5:c.*78A>G	ENSP00000435895.1:n.*78A>G
ENST00000531175.1:n.220A>G
ENST00000531673.5:c.*78A>G	ENSP00000433469.1:n.*78A>G
NM_000317.2:c.269A>G	NP_000308.1:p.His90Arg
XM_011542943.1:c.230A>G	XP_011541245.1:p.His77Arg
NM_000317.3:c.269A>G MANE Select	NP_000308.1:p.His90Arg