Canonical Allele Identifier: CA2058958043

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770583A= , CM000674.2:g.101770583A=	GRCh38
NC_000012.11:g.102164361A= , CM000674.1:g.102164361A=	GRCh37
NC_000012.10:g.100688492A=	NCBI36
NG_021243.1:g.65285T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.936T= MANE Select	ENSP00000299314.7:p.Ser312=
ENST00000299314.11:c.936T=	ENSP00000299314.7:p.Ser312=
ENST00000549940.5:c.936T=	ENSP00000449150.1:p.Ser312=
NM_024312.4:c.936T=	NP_077288.2:p.Ser312=
XM_006719593.2:c.936T=	XP_006719656.1:p.Ser312=
XM_011538731.1:c.855T=	XP_011537033.1:p.Ser285=
XM_006719593.3:c.936T=	XP_006719656.1:p.Ser312=
XM_011538731.2:c.855T=	XP_011537033.1:p.Ser285=
XM_017019961.1:c.720T=	XP_016875450.1:p.Ser240=
XM_017019962.2:c.-292T=	XP_016875451.1:n.-292T=
NM_024312.5:c.936T= MANE Select	NP_077288.2:p.Ser312=