Canonical Allele Identifier: CA2058954239

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760082G= , CM000674.2:g.101760082G=	GRCh38
NC_000012.11:g.102153860G= , CM000674.1:g.102153860G=	GRCh37
NC_000012.10:g.100677991G=	NCBI36
NG_021243.1:g.75786C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3197C= MANE Select	ENSP00000299314.7:p.Thr1066=
ENST00000299314.11:c.3197C=	ENSP00000299314.7:p.Thr1066=
ENST00000549194.1:n.63C=
ENST00000550718.1:c.9C=
NM_024312.4:c.3197C=	NP_077288.2:p.Thr1066=
XM_006719593.2:c.3197C=	XP_006719656.1:p.Thr1066=
XM_011538731.1:c.3116C=	XP_011537033.1:p.Thr1039=
XM_006719593.3:c.3197C=	XP_006719656.1:p.Thr1066=
XM_011538731.2:c.3116C=	XP_011537033.1:p.Thr1039=
XM_017019961.1:c.2981C=	XP_016875450.1:p.Thr994=
XM_017019962.2:c.1970C=	XP_016875451.1:p.Thr657=
NM_024312.5:c.3197C= MANE Select	NP_077288.2:p.Thr1066=