Canonical Allele Identifier: CA2058985218

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830720G= , CM000674.2:g.101830720G=	GRCh38
NC_000012.11:g.102224498G= , CM000674.1:g.102224498G=	GRCh37
NC_000012.10:g.100748629G=	NCBI36
NG_021243.1:g.5148C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-45C= MANE Select	ENSP00000299314.7:n.-45C=
ENST00000299314.11:c.-45C=	ENSP00000299314.7:n.-45C=
ENST00000392919.4:c.-45C=	ENSP00000376651.4:n.-45C=
ENST00000549940.5:c.-45C=	ENSP00000449150.1:n.-45C=
NM_024312.4:c.-45C=	NP_077288.2:n.-45C=
XM_006719593.2:c.-45C=	XP_006719656.1:n.-45C=
XM_006719593.3:c.-45C=	XP_006719656.1:n.-45C=
XM_017019961.1:c.-194C=	XP_016875450.1:n.-194C=
XM_017019962.2:c.-1395C=	XP_016875451.1:n.-1395C=
NM_024312.5:c.-45C= MANE Select	NP_077288.2:n.-45C=