Canonical Allele Identifier: CA2058953145

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761682C= , CM000674.2:g.101761682C=	GRCh38
NC_000012.11:g.102155460C= , CM000674.1:g.102155460C=	GRCh37
NC_000012.10:g.100679591C=	NCBI36
NG_021243.1:g.74186G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2797G= MANE Select	ENSP00000299314.7:p.Asp933=
ENST00000299314.11:c.2797G=	ENSP00000299314.7:p.Asp933=
NM_024312.4:c.2797G=	NP_077288.2:p.Asp933=
XM_006719593.2:c.2797G=	XP_006719656.1:p.Asp933=
XM_011538731.1:c.2716G=	XP_011537033.1:p.Asp906=
XM_006719593.3:c.2797G=	XP_006719656.1:p.Asp933=
XM_011538731.2:c.2716G=	XP_011537033.1:p.Asp906=
XM_017019961.1:c.2581G=	XP_016875450.1:p.Asp861=
XM_017019962.2:c.1570G=	XP_016875451.1:p.Asp524=
NM_024312.5:c.2797G= MANE Select	NP_077288.2:p.Asp933=