Canonical Allele Identifier: CA382627056

Gene: PTS

Linked Data

• MyVariant Identifiers: chr11:g.112099359A>T (hg19) ; chr11:g.112228636A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112228636A>T , CM000673.2:g.112228636A>T	GRCh38
NC_000011.9:g.112099359A>T , CM000673.1:g.112099359A>T	GRCh37
NC_000011.8:g.111604569A>T	NCBI36
NG_008743.1:g.7272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.126A>T MANE Select	ENSP00000280362.3:p.Lys42Asn
ENST00000280362.7:c.126A>T	ENSP00000280362.3:p.Lys42Asn
ENST00000524931.1:c.-79A>T	ENSP00000434688.1:n.-79A>T
ENST00000525645.1:n.201A>T
ENST00000525803.1:c.126A>T	ENSP00000431750.1:p.Lys42Asn
ENST00000528679.5:c.126A>T	ENSP00000435895.1:p.Lys42Asn
ENST00000531673.5:c.126A>T	ENSP00000433469.1:p.Lys42Asn
NM_000317.2:c.126A>T	NP_000308.1:p.Lys42Asn
NM_000317.3:c.126A>T MANE Select	NP_000308.1:p.Lys42Asn