Canonical Allele Identifier: CA386301189

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766165C>T , CM000674.2:g.101766165C>T	GRCh38
NC_000012.11:g.102159943C>T , CM000674.1:g.102159943C>T	GRCh37
NC_000012.10:g.100684074C>T	NCBI36
NG_021243.1:g.69703G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1538G>A MANE Select	NP_077288.2:p.Trp513Ter
ENST00000299314.12:c.1538G>A MANE Select	ENSP00000299314.7:p.Trp513Ter
NM_024312.4:c.1538G>A	NP_077288.2:p.Trp513Ter
ENST00000299314.11:c.1538G>A	ENSP00000299314.7:p.Trp513Ter
ENST00000552009.1:n.197G>A
XM_006719593.2:c.1538G>A	XP_006719656.1:p.Trp513Ter
XM_006719593.3:c.1538G>A	XP_006719656.1:p.Trp513Ter
XM_011538731.1:c.1457G>A	XP_011537033.1:p.Trp486Ter
XM_011538731.2:c.1457G>A	XP_011537033.1:p.Trp486Ter
XM_017019961.1:c.1322G>A	XP_016875450.1:p.Trp441Ter
XM_017019962.2:c.311G>A	XP_016875451.1:p.Trp104Ter