Canonical Allele Identifier: CA2058952297

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757511A= , CM000674.2:g.101757511A=	GRCh38
NC_000012.11:g.102151289A= , CM000674.1:g.102151289A=	GRCh37
NC_000012.10:g.100675420A=	NCBI36
NG_021243.1:g.78357T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+61T= MANE Select	ENSP00000299314.7:n.3335+61T=
ENST00000299314.11:c.3335+61T=	ENSP00000299314.7:n.3335+61T=
ENST00000549194.1:n.201+61T=
ENST00000549738.5:c.86+61T=	ENSP00000450161.1:n.86+61T=
ENST00000550718.1:c.147+61T=
NM_024312.4:c.3335+61T=	NP_077288.2:n.3335+61T=
XM_006719593.2:c.3335+61T=	XP_006719656.1:n.3335+61T=
XM_011538731.1:c.3254+61T=	XP_011537033.1:n.3254+61T=
XM_006719593.3:c.3335+61T=	XP_006719656.1:n.3335+61T=
XM_011538731.2:c.3254+61T=	XP_011537033.1:n.3254+61T=
XM_017019961.1:c.3119+61T=	XP_016875450.1:n.3119+61T=
XM_017019962.2:c.2108+61T=	XP_016875451.1:n.2108+61T=
NM_024312.5:c.3335+61T= MANE Select	NP_077288.2:n.3335+61T=