Canonical Allele Identifier: CA2058952357

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757621G= , CM000674.2:g.101757621G=	GRCh38
NC_000012.11:g.102151399G= , CM000674.1:g.102151399G=	GRCh37
NC_000012.10:g.100675530G=	NCBI36
NG_021243.1:g.78247C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3286C= MANE Select	ENSP00000299314.7:p.Pro1096=
ENST00000299314.11:c.3286C=	ENSP00000299314.7:p.Pro1096=
ENST00000549194.1:n.152C=
ENST00000549738.5:c.37C=	ENSP00000450161.1:p.Pro13=
ENST00000550718.1:c.98C=
NM_024312.4:c.3286C=	NP_077288.2:p.Pro1096=
XM_006719593.2:c.3286C=	XP_006719656.1:p.Pro1096=
XM_011538731.1:c.3205C=	XP_011537033.1:p.Pro1069=
XM_006719593.3:c.3286C=	XP_006719656.1:p.Pro1096=
XM_011538731.2:c.3205C=	XP_011537033.1:p.Pro1069=
XM_017019961.1:c.3070C=	XP_016875450.1:p.Pro1024=
XM_017019962.2:c.2059C=	XP_016875451.1:p.Pro687=
NM_024312.5:c.3286C= MANE Select	NP_077288.2:p.Pro1096=