Canonical Allele Identifier: CA2058955609

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764919A= , CM000674.2:g.101764919A=	GRCh38
NC_000012.11:g.102158697A= , CM000674.1:g.102158697A=	GRCh37
NC_000012.10:g.100682828A=	NCBI36
NG_021243.1:g.70949T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1998T= MANE Select	ENSP00000299314.7:p.Phe666=
ENST00000299314.11:c.1998T=	ENSP00000299314.7:p.Phe666=
NM_024312.4:c.1998T=	NP_077288.2:p.Phe666=
XM_006719593.2:c.1998T=	XP_006719656.1:p.Phe666=
XM_011538731.1:c.1917T=	XP_011537033.1:p.Phe639=
XM_006719593.3:c.1998T=	XP_006719656.1:p.Phe666=
XM_011538731.2:c.1917T=	XP_011537033.1:p.Phe639=
XM_017019961.1:c.1782T=	XP_016875450.1:p.Phe594=
XM_017019962.2:c.771T=	XP_016875451.1:p.Phe257=
NM_024312.5:c.1998T= MANE Select	NP_077288.2:p.Phe666=