Canonical Allele Identifier: CA6746908

Gene: GNPTAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101788565C>T , CM000674.2:g.101788565C>T	GRCh38
NC_000012.11:g.102182343C>T , CM000674.1:g.102182343C>T	GRCh37
NC_000012.10:g.100706474C>T	NCBI36
NG_021243.1:g.47303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.348G>A MANE Select	ENSP00000299314.7:p.Thr116=
ENST00000299314.11:c.348G>A	ENSP00000299314.7:p.Thr116=
ENST00000549940.5:c.348G>A	ENSP00000449150.1:p.Thr116=
ENST00000550352.1:n.142G>A
NM_024312.4:c.348G>A	NP_077288.2:p.Thr116=
XM_006719593.2:c.348G>A	XP_006719656.1:p.Thr116=
XM_011538731.1:c.267G>A	XP_011537033.1:p.Thr89=
XM_006719593.3:c.348G>A	XP_006719656.1:p.Thr116=
XM_011538731.2:c.267G>A	XP_011537033.1:p.Thr89=
XM_017019961.1:c.132G>A	XP_016875450.1:p.Thr44=
XM_017019962.2:c.-1003G>A	XP_016875451.1:n.-1003G>A
NM_024312.5:c.348G>A MANE Select	NP_077288.2:p.Thr116=