Canonical Allele Identifier: CA2058950598

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753518G= , CM000674.2:g.101753518G=	GRCh38
NC_000012.11:g.102147296G= , CM000674.1:g.102147296G=	GRCh37
NC_000012.10:g.100671427G=	NCBI36
NG_021243.1:g.82350C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3456C= MANE Select	ENSP00000299314.7:p.Asp1152=
ENST00000299314.11:c.3456C=	ENSP00000299314.7:p.Asp1152=
ENST00000549738.5:c.354C=	ENSP00000450161.1:n.354C=
NM_024312.4:c.3456C=	NP_077288.2:p.Asp1152=
XM_011538731.1:c.3375C=	XP_011537033.1:p.Asp1125=
XM_011538731.2:c.3375C=	XP_011537033.1:p.Asp1125=
XM_017019961.1:c.3240C=	XP_016875450.1:p.Asp1080=
XM_017019962.2:c.2229C=	XP_016875451.1:p.Asp743=
NM_024312.5:c.3456C= MANE Select	NP_077288.2:p.Asp1152=