Canonical Allele Identifier: CA601757859

Gene: PTS

Linked Data

• dbSNP Id: rs1482316218
• gnomAD v2: 11-112101309-G-A
• gnomAD v4: 11-112230586-G-A
• MyVariant Identifiers: chr11:g.112101309G>A (hg19) ; chr11:g.112230586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230586G>A , CM000673.2:g.112230586G>A	GRCh38
NC_000011.9:g.112101309G>A , CM000673.1:g.112101309G>A	GRCh37
NC_000011.8:g.111606519G>A	NCBI36
NG_008743.1:g.9222G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.187-40G>A MANE Select	ENSP00000280362.3:n.187-40G>A
ENST00000280362.7:c.187-40G>A	ENSP00000280362.3:n.187-40G>A
ENST00000524931.1:c.-18-40G>A	ENSP00000434688.1:n.-18-40G>A
ENST00000525803.1:c.163+1913G>A	ENSP00000431750.1:n.163+1913G>A
ENST00000527428.5:n.321G>A
ENST00000527635.1:n.188G>A
ENST00000528679.5:c.164-40G>A	ENSP00000435895.1:n.164-40G>A
ENST00000531175.1:n.138-40G>A
ENST00000531673.5:c.164-40G>A	ENSP00000433469.1:n.164-40G>A
NM_000317.2:c.187-40G>A	NP_000308.1:n.187-40G>A
XM_011542943.1:c.148-40G>A	XP_011541245.1:n.148-40G>A
NM_000317.3:c.187-40G>A MANE Select	NP_000308.1:n.187-40G>A