Canonical Allele Identifier: CA382626904

Gene: PTS

Linked Data

• dbSNP Id: rs1178886103
• gnomAD v2: 11-112099316-G-T
• gnomAD v3: 11-112228593-G-T
• gnomAD v4: 11-112228593-G-T
• MyVariant Identifiers: chr11:g.112099316G>T (hg19) ; chr11:g.112228593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228593G>T , CM000673.2:g.112228593G>T	GRCh38
NC_000011.9:g.112099316G>T , CM000673.1:g.112099316G>T	GRCh37
NC_000011.8:g.111604526G>T	NCBI36
NG_008743.1:g.7229G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.84-1G>T MANE Select	ENSP00000280362.3:n.84-1G>T
ENST00000280362.7:c.84-1G>T	ENSP00000280362.3:n.84-1G>T
ENST00000524931.1:c.-121-1G>T	ENSP00000434688.1:n.-121-1G>T
ENST00000525645.1:n.159-1G>T
ENST00000525803.1:c.84-1G>T	ENSP00000431750.1:n.84-1G>T
ENST00000528679.5:c.84-1G>T	ENSP00000435895.1:n.84-1G>T
ENST00000531673.5:c.84-1G>T	ENSP00000433469.1:n.84-1G>T
NM_000317.2:c.84-1G>T	NP_000308.1:n.84-1G>T
NM_000317.3:c.84-1G>T MANE Select	NP_000308.1:n.84-1G>T