Canonical Allele Identifier: CA2058954193

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760042A= , CM000674.2:g.101760042A=	GRCh38
NC_000012.11:g.102153820A= , CM000674.1:g.102153820A=	GRCh37
NC_000012.10:g.100677951A=	NCBI36
NG_021243.1:g.75826T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3237T= MANE Select	ENSP00000299314.7:p.Tyr1079=
ENST00000299314.11:c.3237T=	ENSP00000299314.7:p.Tyr1079=
ENST00000549194.1:n.103T=
ENST00000550718.1:c.49T=
NM_024312.4:c.3237T=	NP_077288.2:p.Tyr1079=
XM_006719593.2:c.3237T=	XP_006719656.1:p.Tyr1079=
XM_011538731.1:c.3156T=	XP_011537033.1:p.Tyr1052=
XM_006719593.3:c.3237T=	XP_006719656.1:p.Tyr1079=
XM_011538731.2:c.3156T=	XP_011537033.1:p.Tyr1052=
XM_017019961.1:c.3021T=	XP_016875450.1:p.Tyr1007=
XM_017019962.2:c.2010T=	XP_016875451.1:p.Tyr670=
NM_024312.5:c.3237T= MANE Select	NP_077288.2:p.Tyr1079=