Canonical Allele Identifier: CA2058958072

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770666G= , CM000674.2:g.101770666G=	GRCh38
NC_000012.11:g.102164444G= , CM000674.1:g.102164444G=	GRCh37
NC_000012.10:g.100688575G=	NCBI36
NG_021243.1:g.65202C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.934-81C= MANE Select	ENSP00000299314.7:n.934-81C=
ENST00000299314.11:c.934-81C=	ENSP00000299314.7:n.934-81C=
ENST00000549940.5:c.934-81C=	ENSP00000449150.1:n.934-81C=
NM_024312.4:c.934-81C=	NP_077288.2:n.934-81C=
XM_006719593.2:c.934-81C=	XP_006719656.1:n.934-81C=
XM_011538731.1:c.853-81C=	XP_011537033.1:n.853-81C=
XM_006719593.3:c.934-81C=	XP_006719656.1:n.934-81C=
XM_011538731.2:c.853-81C=	XP_011537033.1:n.853-81C=
XM_017019961.1:c.718-81C=	XP_016875450.1:n.718-81C=
XM_017019962.2:c.-375C=	XP_016875451.1:n.-375C=
NM_024312.5:c.934-81C= MANE Select	NP_077288.2:n.934-81C=