Canonical Allele Identifier: CA2058985219

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830722C= , CM000674.2:g.101830722C=	GRCh38
NC_000012.11:g.102224500C= , CM000674.1:g.102224500C=	GRCh37
NC_000012.10:g.100748631C=	NCBI36
NG_021243.1:g.5146G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-47G= MANE Select	ENSP00000299314.7:n.-47G=
ENST00000299314.11:c.-47G=	ENSP00000299314.7:n.-47G=
ENST00000392919.4:c.-47G=	ENSP00000376651.4:n.-47G=
ENST00000549940.5:c.-47G=	ENSP00000449150.1:n.-47G=
NM_024312.4:c.-47G=	NP_077288.2:n.-47G=
XM_006719593.2:c.-47G=	XP_006719656.1:n.-47G=
XM_006719593.3:c.-47G=	XP_006719656.1:n.-47G=
XM_017019961.1:c.-196G=	XP_016875450.1:n.-196G=
XM_017019962.2:c.-1397G=	XP_016875451.1:n.-1397G=
NM_024312.5:c.-47G= MANE Select	NP_077288.2:n.-47G=