Canonical Allele Identifier: CA2058952934

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761571G= , CM000674.2:g.101761571G=	GRCh38
NC_000012.11:g.102155349G= , CM000674.1:g.102155349G=	GRCh37
NC_000012.10:g.100679480G=	NCBI36
NG_021243.1:g.74297C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2908C= MANE Select	ENSP00000299314.7:p.Gln970=
ENST00000299314.11:c.2908C=	ENSP00000299314.7:p.Gln970=
NM_024312.4:c.2908C=	NP_077288.2:p.Gln970=
XM_006719593.2:c.2908C=	XP_006719656.1:p.Gln970=
XM_011538731.1:c.2827C=	XP_011537033.1:p.Gln943=
XM_006719593.3:c.2908C=	XP_006719656.1:p.Gln970=
XM_011538731.2:c.2827C=	XP_011537033.1:p.Gln943=
XM_017019961.1:c.2692C=	XP_016875450.1:p.Gln898=
XM_017019962.2:c.1681C=	XP_016875451.1:p.Gln561=
NM_024312.5:c.2908C= MANE Select	NP_077288.2:p.Gln970=