Canonical Allele Identifier: CA382627532

Gene: PTS

Linked Data

• gnomAD v4: 11-112230217-C-T
• MyVariant Identifiers: chr11:g.112100940C>T (hg19) ; chr11:g.112230217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230217C>T , CM000673.2:g.112230217C>T	GRCh38
NC_000011.9:g.112100940C>T , CM000673.1:g.112100940C>T	GRCh37
NC_000011.8:g.111606150C>T	NCBI36
NG_008743.1:g.8853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.173C>T MANE Select	ENSP00000280362.3:p.Thr58Ile
ENST00000280362.7:c.173C>T	ENSP00000280362.3:p.Thr58Ile
ENST00000524931.1:c.-32C>T	ENSP00000434688.1:n.-32C>T
ENST00000525803.1:c.163+1544C>T	ENSP00000431750.1:n.163+1544C>T
ENST00000528679.5:c.164-409C>T	ENSP00000435895.1:n.164-409C>T
ENST00000531175.1:n.124C>T
ENST00000531673.5:c.164-409C>T	ENSP00000433469.1:n.164-409C>T
NM_000317.2:c.173C>T	NP_000308.1:p.Thr58Ile
XM_011542943.1:c.134C>T	XP_011541245.1:p.Thr45Ile
NM_000317.3:c.173C>T MANE Select	NP_000308.1:p.Thr58Ile