Canonical Allele Identifier: CA2058957103

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768351T= , CM000674.2:g.101768351T=	GRCh38
NC_000012.11:g.102162129T= , CM000674.1:g.102162129T=	GRCh37
NC_000012.10:g.100686260T=	NCBI36
NG_021243.1:g.67517A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-191A= MANE Select	ENSP00000299314.7:n.1285-191A=
ENST00000299314.11:c.1285-191A=	ENSP00000299314.7:n.1285-191A=
ENST00000549940.5:c.1285-191A=	ENSP00000449150.1:n.1285-191A=
NM_024312.4:c.1285-191A=	NP_077288.2:n.1285-191A=
XM_006719593.2:c.1285-191A=	XP_006719656.1:n.1285-191A=
XM_011538731.1:c.1204-191A=	XP_011537033.1:n.1204-191A=
XM_006719593.3:c.1285-191A=	XP_006719656.1:n.1285-191A=
XM_011538731.2:c.1204-191A=	XP_011537033.1:n.1204-191A=
XM_017019961.1:c.1069-191A=	XP_016875450.1:n.1069-191A=
XM_017019962.2:c.58-191A=	XP_016875451.1:n.58-191A=
NM_024312.5:c.1285-191A= MANE Select	NP_077288.2:n.1285-191A=