Canonical Allele Identifier: CA2058953184

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761716T= , CM000674.2:g.101761716T=	GRCh38
NC_000012.11:g.102155494T= , CM000674.1:g.102155494T=	GRCh37
NC_000012.10:g.100679625T=	NCBI36
NG_021243.1:g.74152A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2763A= MANE Select	ENSP00000299314.7:p.Lys921=
ENST00000299314.11:c.2763A=	ENSP00000299314.7:p.Lys921=
NM_024312.4:c.2763A=	NP_077288.2:p.Lys921=
XM_006719593.2:c.2763A=	XP_006719656.1:p.Lys921=
XM_011538731.1:c.2682A=	XP_011537033.1:p.Lys894=
XM_006719593.3:c.2763A=	XP_006719656.1:p.Lys921=
XM_011538731.2:c.2682A=	XP_011537033.1:p.Lys894=
XM_017019961.1:c.2547A=	XP_016875450.1:p.Lys849=
XM_017019962.2:c.1536A=	XP_016875451.1:p.Lys512=
NM_024312.5:c.2763A= MANE Select	NP_077288.2:p.Lys921=