Canonical Allele Identifier: CA601756939

Gene: PTS

Linked Data

• dbSNP Id: rs1440594489
• gnomAD v2: 11-112097127-G-T
• gnomAD v4: 11-112226404-G-T
• MyVariant Identifiers: chr11:g.112097127G>T (hg19) ; chr11:g.112226404G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112226404G>T , CM000673.2:g.112226404G>T	GRCh38
NC_000011.9:g.112097127G>T , CM000673.1:g.112097127G>T	GRCh37
NC_000011.8:g.111602337G>T	NCBI36
NG_008743.1:g.5040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.7:c.-40G>T	ENSP00000280362.3:n.-40G>T
ENST00000525645.1:n.36G>T
ENST00000528679.5:c.-40G>T	ENSP00000435895.1:n.-40G>T
ENST00000531673.5:c.-40G>T	ENSP00000433469.1:n.-40G>T
NM_000317.2:c.-40G>T	NP_000308.1:n.-40G>T