Canonical Allele Identifier: CA2058952488

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761221A= , CM000674.2:g.101761221A=	GRCh38
NC_000012.11:g.102154999A= , CM000674.1:g.102154999A=	GRCh37
NC_000012.10:g.100679130A=	NCBI36
NG_021243.1:g.74647T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3041T= MANE Select	ENSP00000299314.7:p.Phe1014=
ENST00000299314.11:c.3041T=	ENSP00000299314.7:p.Phe1014=
NM_024312.4:c.3041T=	NP_077288.2:p.Phe1014=
XM_006719593.2:c.3041T=	XP_006719656.1:p.Phe1014=
XM_011538731.1:c.2960T=	XP_011537033.1:p.Phe987=
XM_006719593.3:c.3041T=	XP_006719656.1:p.Phe1014=
XM_011538731.2:c.2960T=	XP_011537033.1:p.Phe987=
XM_017019961.1:c.2825T=	XP_016875450.1:p.Phe942=
XM_017019962.2:c.1814T=	XP_016875451.1:p.Phe605=
NM_024312.5:c.3041T= MANE Select	NP_077288.2:p.Phe1014=