Canonical Allele Identifier: CA2058955321

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764239G= , CM000674.2:g.101764239G=	GRCh38
NC_000012.11:g.102158017G= , CM000674.1:g.102158017G=	GRCh37
NC_000012.10:g.100682148G=	NCBI36
NG_021243.1:g.71629C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2678C= MANE Select	ENSP00000299314.7:p.Pro893=
ENST00000299314.11:c.2678C=	ENSP00000299314.7:p.Pro893=
NM_024312.4:c.2678C=	NP_077288.2:p.Pro893=
XM_006719593.2:c.2678C=	XP_006719656.1:p.Pro893=
XM_011538731.1:c.2597C=	XP_011537033.1:p.Pro866=
XM_006719593.3:c.2678C=	XP_006719656.1:p.Pro893=
XM_011538731.2:c.2597C=	XP_011537033.1:p.Pro866=
XM_017019961.1:c.2462C=	XP_016875450.1:p.Pro821=
XM_017019962.2:c.1451C=	XP_016875451.1:p.Pro484=
NM_024312.5:c.2678C= MANE Select	NP_077288.2:p.Pro893=