Canonical Allele Identifier: CA2058952191

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757258C= , CM000674.2:g.101757258C=	GRCh38
NC_000012.11:g.102151036C= , CM000674.1:g.102151036C=	GRCh37
NC_000012.10:g.100675167C=	NCBI36
NG_021243.1:g.78610G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3388G= MANE Select	ENSP00000299314.7:p.Val1130=
ENST00000299314.11:c.3388G=	ENSP00000299314.7:p.Val1130=
ENST00000549194.1:n.254G=
ENST00000549738.5:c.139G=	ENSP00000450161.1:p.Val47=
ENST00000550718.1:c.200G=
NM_024312.4:c.3388G=	NP_077288.2:p.Val1130=
XM_006719593.2:c.3388G=	XP_006719656.1:p.Val1130=
XM_011538731.1:c.3307G=	XP_011537033.1:p.Val1103=
XM_006719593.3:c.3388G=	XP_006719656.1:p.Val1130=
XM_011538731.2:c.3307G=	XP_011537033.1:p.Val1103=
XM_017019961.1:c.3172G=	XP_016875450.1:p.Val1058=
XM_017019962.2:c.2161G=	XP_016875451.1:p.Val721=
NM_024312.5:c.3388G= MANE Select	NP_077288.2:p.Val1130=