Canonical Allele Identifier: CA2058952285

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757487G= , CM000674.2:g.101757487G=	GRCh38
NC_000012.11:g.102151265G= , CM000674.1:g.102151265G=	GRCh37
NC_000012.10:g.100675396G=	NCBI36
NG_021243.1:g.78381C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+85C= MANE Select	ENSP00000299314.7:n.3335+85C=
ENST00000299314.11:c.3335+85C=	ENSP00000299314.7:n.3335+85C=
ENST00000549194.1:n.201+85C=
ENST00000549738.5:c.86+85C=	ENSP00000450161.1:n.86+85C=
ENST00000550718.1:c.147+85C=
NM_024312.4:c.3335+85C=	NP_077288.2:n.3335+85C=
XM_006719593.2:c.3335+85C=	XP_006719656.1:n.3335+85C=
XM_011538731.1:c.3254+85C=	XP_011537033.1:n.3254+85C=
XM_006719593.3:c.3335+85C=	XP_006719656.1:n.3335+85C=
XM_011538731.2:c.3254+85C=	XP_011537033.1:n.3254+85C=
XM_017019961.1:c.3119+85C=	XP_016875450.1:n.3119+85C=
XM_017019962.2:c.2108+85C=	XP_016875451.1:n.2108+85C=
NM_024312.5:c.3335+85C= MANE Select	NP_077288.2:n.3335+85C=