Canonical Allele Identifier: CA382628013

Gene: PTS

Linked Data

• gnomAD v4: 11-112233466-A-G
• MyVariant Identifiers: chr11:g.112104189A>G (hg19) ; chr11:g.112233466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112233466A>G , CM000673.2:g.112233466A>G	GRCh38
NC_000011.9:g.112104189A>G , CM000673.1:g.112104189A>G	GRCh37
NC_000011.8:g.111609399A>G	NCBI36
NG_008743.1:g.12102A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000280362.8:c.349A>G MANE Select	ENSP00000280362.3:p.Asn117Asp
ENST00000280362.7:c.349A>G	ENSP00000280362.3:p.Asn117Asp
ENST00000524931.1:c.145A>G	ENSP00000434688.1:p.Asn49Asp
ENST00000525803.1:c.*83A>G	ENSP00000431750.1:n.*83A>G
ENST00000527428.5:n.488+233A>G
ENST00000527635.1:n.390A>G
ENST00000528679.5:c.*158A>G	ENSP00000435895.1:n.*158A>G
ENST00000531673.5:c.*123+233A>G	ENSP00000433469.1:n.*123+233A>G
NM_000317.2:c.349A>G	NP_000308.1:p.Asn117Asp
XM_011542943.1:c.310A>G	XP_011541245.1:p.Asn104Asp
NM_000317.3:c.349A>G MANE Select	NP_000308.1:p.Asn117Asp