Canonical Allele Identifier: CA481326335

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786202C>T , CM000674.2:g.101786202C>T	GRCh38
NC_000012.11:g.102179980C>T , CM000674.1:g.102179980C>T	GRCh37
NC_000012.10:g.100704111C>T	NCBI36
NG_021243.1:g.49666G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.381G>A MANE Select	NP_077288.2:p.Glu127=
ENST00000299314.12:c.381G>A MANE Select	ENSP00000299314.7:p.Glu127=
NM_024312.4:c.381G>A	NP_077288.2:p.Glu127=
ENST00000299314.11:c.381G>A	ENSP00000299314.7:p.Glu127=
ENST00000549940.5:c.381G>A	ENSP00000449150.1:p.Glu127=
ENST00000550352.1:n.175G>A
ENST00000552681.1:c.15G>A	ENSP00000449217.1:p.Glu5=
XM_006719593.2:c.381G>A	XP_006719656.1:p.Glu127=
XM_006719593.3:c.381G>A	XP_006719656.1:p.Glu127=
XM_011538731.1:c.300G>A	XP_011537033.1:p.Glu100=
XM_011538731.2:c.300G>A	XP_011537033.1:p.Glu100=
XM_017019961.1:c.165G>A	XP_016875450.1:p.Glu55=
XM_017019962.2:c.-970G>A	XP_016875451.1:n.-970G>A