Canonical Allele Identifier: CA2058964837

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786132G= , CM000674.2:g.101786132G=	GRCh38
NC_000012.11:g.102179910G= , CM000674.1:g.102179910G=	GRCh37
NC_000012.10:g.100704041G=	NCBI36
NG_021243.1:g.49736C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.451C= MANE Select	ENSP00000299314.7:p.Leu151=
ENST00000299314.11:c.451C=	ENSP00000299314.7:p.Leu151=
ENST00000549940.5:c.451C=	ENSP00000449150.1:p.Leu151=
ENST00000550352.1:n.245C=
ENST00000552681.1:c.85C=	ENSP00000449217.1:p.Leu29=
NM_024312.4:c.451C=	NP_077288.2:p.Leu151=
XM_006719593.2:c.451C=	XP_006719656.1:p.Leu151=
XM_011538731.1:c.370C=	XP_011537033.1:p.Leu124=
XM_006719593.3:c.451C=	XP_006719656.1:p.Leu151=
XM_011538731.2:c.370C=	XP_011537033.1:p.Leu124=
XM_017019961.1:c.235C=	XP_016875450.1:p.Leu79=
XM_017019962.2:c.-900C=	XP_016875451.1:n.-900C=
NM_024312.5:c.451C= MANE Select	NP_077288.2:p.Leu151=