Canonical Allele Identifier: CA386303531

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101771049C>A , CM000674.2:g.101771049C>A	GRCh38
NC_000012.11:g.102164827C>A , CM000674.1:g.102164827C>A	GRCh37
NC_000012.10:g.100688958C>A	NCBI36
NG_021243.1:g.64819G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.880G>T MANE Select	NP_077288.2:p.Glu294Ter
ENST00000299314.12:c.880G>T MANE Select	ENSP00000299314.7:p.Glu294Ter
NM_024312.4:c.880G>T	NP_077288.2:p.Glu294Ter
ENST00000299314.11:c.880G>T	ENSP00000299314.7:p.Glu294Ter
ENST00000549940.5:c.880G>T	ENSP00000449150.1:p.Glu294Ter
XM_006719593.2:c.880G>T	XP_006719656.1:p.Glu294Ter
XM_006719593.3:c.880G>T	XP_006719656.1:p.Glu294Ter
XM_011538731.1:c.799G>T	XP_011537033.1:p.Glu267Ter
XM_011538731.2:c.799G>T	XP_011537033.1:p.Glu267Ter
XM_017019961.1:c.664G>T	XP_016875450.1:p.Glu222Ter
XM_017019962.2:c.-471G>T	XP_016875451.1:n.-471G>T