Canonical Allele Identifier: CA2058969429

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796669G= , CM000674.2:g.101796669G=	GRCh38
NC_000012.11:g.102190447G= , CM000674.1:g.102190447G=	GRCh37
NC_000012.10:g.100714578G=	NCBI36
NG_021243.1:g.39199C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+8C= MANE Select	ENSP00000299314.7:n.203+8C=
ENST00000647144.1:n.323+8C=
ENST00000299314.11:c.203+8C=	ENSP00000299314.7:n.203+8C=
ENST00000392919.4:c.203+8C=	ENSP00000376651.4:n.203+8C=
ENST00000549165.1:c.*4C=	ENSP00000450413.1:n.*4C=
ENST00000549940.5:c.203+8C=	ENSP00000449150.1:n.203+8C=
NM_024312.4:c.203+8C=	NP_077288.2:n.203+8C=
XM_006719593.2:c.203+8C=	XP_006719656.1:n.203+8C=
XM_011538731.1:c.122+8C=	XP_011537033.1:n.122+8C=
XM_006719593.3:c.203+8C=	XP_006719656.1:n.203+8C=
XM_011538731.2:c.122+8C=	XP_011537033.1:n.122+8C=
XM_017019961.1:c.-14+8C=	XP_016875450.1:n.-14+8C=
XM_017019962.2:c.-1148+8C=	XP_016875451.1:n.-1148+8C=
NM_024312.5:c.203+8C= MANE Select	NP_077288.2:n.203+8C=