Canonical Allele Identifier: CA2058964782

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786017T= , CM000674.2:g.101786017T=	GRCh38
NC_000012.11:g.102179795T= , CM000674.1:g.102179795T=	GRCh37
NC_000012.10:g.100703926T=	NCBI36
NG_021243.1:g.49851A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.566A= MANE Select	ENSP00000299314.7:p.Lys189=
ENST00000299314.11:c.566A=	ENSP00000299314.7:p.Lys189=
ENST00000549940.5:c.566A=	ENSP00000449150.1:p.Lys189=
ENST00000550352.1:n.360A=
ENST00000552681.1:c.200A=	ENSP00000449217.1:p.Lys67=
NM_024312.4:c.566A=	NP_077288.2:p.Lys189=
XM_006719593.2:c.566A=	XP_006719656.1:p.Lys189=
XM_011538731.1:c.485A=	XP_011537033.1:p.Lys162=
XM_006719593.3:c.566A=	XP_006719656.1:p.Lys189=
XM_011538731.2:c.485A=	XP_011537033.1:p.Lys162=
XM_017019961.1:c.350A=	XP_016875450.1:p.Lys117=
XM_017019962.2:c.-785A=	XP_016875451.1:n.-785A=
NM_024312.5:c.566A= MANE Select	NP_077288.2:p.Lys189=