Canonical Allele Identifier: CA602134605

Gene: PTS

Linked Data

• dbSNP Id: rs1262363294
• gnomAD v2: 11-112103959-G-A
• gnomAD v3: 11-112233236-G-A
• gnomAD v4: 11-112233236-G-A
• MyVariant Identifiers: chr11:g.112103959G>A (hg19) ; chr11:g.112233236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233236G>A , CM000673.2:g.112233236G>A	GRCh38
NC_000011.9:g.112103959G>A , CM000673.1:g.112103959G>A	GRCh37
NC_000011.8:g.111609169G>A	NCBI36
NG_008743.1:g.11872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.314+3G>A MANE Select	ENSP00000280362.3:n.314+3G>A
ENST00000280362.7:c.314+3G>A	ENSP00000280362.3:n.314+3G>A
ENST00000524931.1:c.110+3G>A	ENSP00000434688.1:n.110+3G>A
ENST00000525803.1:c.*48+3G>A	ENSP00000431750.1:n.*48+3G>A
ENST00000527428.5:n.488+3G>A
ENST00000527635.1:n.355+3G>A
ENST00000528679.5:c.*123+3G>A	ENSP00000435895.1:n.*123+3G>A
ENST00000531175.1:n.268G>A
ENST00000531673.5:c.*123+3G>A	ENSP00000433469.1:n.*123+3G>A
NM_000317.2:c.314+3G>A	NP_000308.1:n.314+3G>A
XM_011542943.1:c.275+3G>A	XP_011541245.1:n.275+3G>A
NM_000317.3:c.314+3G>A MANE Select	NP_000308.1:n.314+3G>A