Canonical Allele Identifier: CA2058952350

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757605A= , CM000674.2:g.101757605A=	GRCh38
NC_000012.11:g.102151383A= , CM000674.1:g.102151383A=	GRCh37
NC_000012.10:g.100675514A=	NCBI36
NG_021243.1:g.78263T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3302T= MANE Select	ENSP00000299314.7:p.Ile1101=
ENST00000299314.11:c.3302T=	ENSP00000299314.7:p.Ile1101=
ENST00000549194.1:n.168T=
ENST00000549738.5:c.53T=	ENSP00000450161.1:p.Ile18=
ENST00000550718.1:c.114T=
NM_024312.4:c.3302T=	NP_077288.2:p.Ile1101=
XM_006719593.2:c.3302T=	XP_006719656.1:p.Ile1101=
XM_011538731.1:c.3221T=	XP_011537033.1:p.Ile1074=
XM_006719593.3:c.3302T=	XP_006719656.1:p.Ile1101=
XM_011538731.2:c.3221T=	XP_011537033.1:p.Ile1074=
XM_017019961.1:c.3086T=	XP_016875450.1:p.Ile1029=
XM_017019962.2:c.2075T=	XP_016875451.1:p.Ile692=
NM_024312.5:c.3302T= MANE Select	NP_077288.2:p.Ile1101=