Canonical Allele Identifier: CA382627539

Gene: PTS

Linked Data

• gnomAD v4: 11-112230219-G-T
• MyVariant Identifiers: chr11:g.112100942G>T (hg19) ; chr11:g.112230219G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112230219G>T , CM000673.2:g.112230219G>T	GRCh38
NC_000011.9:g.112100942G>T , CM000673.1:g.112100942G>T	GRCh37
NC_000011.8:g.111606152G>T	NCBI36
NG_008743.1:g.8855G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280362.8:c.175G>T MANE Select	ENSP00000280362.3:p.Val59Leu
ENST00000280362.7:c.175G>T	ENSP00000280362.3:p.Val59Leu
ENST00000524931.1:c.-30G>T	ENSP00000434688.1:n.-30G>T
ENST00000525803.1:c.163+1546G>T	ENSP00000431750.1:n.163+1546G>T
ENST00000528679.5:c.164-407G>T	ENSP00000435895.1:n.164-407G>T
ENST00000531175.1:n.126G>T
ENST00000531673.5:c.164-407G>T	ENSP00000433469.1:n.164-407G>T
NM_000317.2:c.175G>T	NP_000308.1:p.Val59Leu
XM_011542943.1:c.136G>T	XP_011541245.1:p.Val46Leu
NM_000317.3:c.175G>T MANE Select	NP_000308.1:p.Val59Leu