Canonical Allele Identifier: CA2058957011

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768178A= , CM000674.2:g.101768178A=	GRCh38
NC_000012.11:g.102161956A= , CM000674.1:g.102161956A=	GRCh37
NC_000012.10:g.100686087A=	NCBI36
NG_021243.1:g.67690T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-18T= MANE Select	ENSP00000299314.7:n.1285-18T=
ENST00000299314.11:c.1285-18T=	ENSP00000299314.7:n.1285-18T=
ENST00000549940.5:c.1285-18T=	ENSP00000449150.1:n.1285-18T=
NM_024312.4:c.1285-18T=	NP_077288.2:n.1285-18T=
XM_006719593.2:c.1285-18T=	XP_006719656.1:n.1285-18T=
XM_011538731.1:c.1204-18T=	XP_011537033.1:n.1204-18T=
XM_006719593.3:c.1285-18T=	XP_006719656.1:n.1285-18T=
XM_011538731.2:c.1204-18T=	XP_011537033.1:n.1204-18T=
XM_017019961.1:c.1069-18T=	XP_016875450.1:n.1069-18T=
XM_017019962.2:c.58-18T=	XP_016875451.1:n.58-18T=
NM_024312.5:c.1285-18T= MANE Select	NP_077288.2:n.1285-18T=