Canonical Allele Identifier: CA2058964829

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786117A= , CM000674.2:g.101786117A=	GRCh38
NC_000012.11:g.102179895A= , CM000674.1:g.102179895A=	GRCh37
NC_000012.10:g.100704026A=	NCBI36
NG_021243.1:g.49751T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.466T= MANE Select	ENSP00000299314.7:p.Ser156=
ENST00000299314.11:c.466T=	ENSP00000299314.7:p.Ser156=
ENST00000549940.5:c.466T=	ENSP00000449150.1:p.Ser156=
ENST00000550352.1:n.260T=
ENST00000552681.1:c.100T=	ENSP00000449217.1:p.Ser34=
NM_024312.4:c.466T=	NP_077288.2:p.Ser156=
XM_006719593.2:c.466T=	XP_006719656.1:p.Ser156=
XM_011538731.1:c.385T=	XP_011537033.1:p.Ser129=
XM_006719593.3:c.466T=	XP_006719656.1:p.Ser156=
XM_011538731.2:c.385T=	XP_011537033.1:p.Ser129=
XM_017019961.1:c.250T=	XP_016875450.1:p.Ser84=
XM_017019962.2:c.-885T=	XP_016875451.1:n.-885T=
NM_024312.5:c.466T= MANE Select	NP_077288.2:p.Ser156=