Canonical Allele Identifier: CA2058952371

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757653G= , CM000674.2:g.101757653G=	GRCh38
NC_000012.11:g.102151431G= , CM000674.1:g.102151431G=	GRCh37
NC_000012.10:g.100675562G=	NCBI36
NG_021243.1:g.78215C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3254C= MANE Select	ENSP00000299314.7:p.Pro1085=
ENST00000299314.11:c.3254C=	ENSP00000299314.7:p.Pro1085=
ENST00000549194.1:n.120C=
ENST00000549738.5:c.5C=	ENSP00000450161.1:p.Pro2=
ENST00000550718.1:c.66C=
NM_024312.4:c.3254C=	NP_077288.2:p.Pro1085=
XM_006719593.2:c.3254C=	XP_006719656.1:p.Pro1085=
XM_011538731.1:c.3173C=	XP_011537033.1:p.Pro1058=
XM_006719593.3:c.3254C=	XP_006719656.1:p.Pro1085=
XM_011538731.2:c.3173C=	XP_011537033.1:p.Pro1058=
XM_017019961.1:c.3038C=	XP_016875450.1:p.Pro1013=
XM_017019962.2:c.2027C=	XP_016875451.1:p.Pro676=
NM_024312.5:c.3254C= MANE Select	NP_077288.2:p.Pro1085=