Canonical Allele Identifier: CA2058952337

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757576A= , CM000674.2:g.101757576A=	GRCh38
NC_000012.11:g.102151354A= , CM000674.1:g.102151354A=	GRCh37
NC_000012.10:g.100675485A=	NCBI36
NG_021243.1:g.78292T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3331T= MANE Select	ENSP00000299314.7:p.Tyr1111=
ENST00000299314.11:c.3331T=	ENSP00000299314.7:p.Tyr1111=
ENST00000549194.1:n.197T=
ENST00000549738.5:c.82T=	ENSP00000450161.1:p.Tyr28=
ENST00000550718.1:c.143T=
NM_024312.4:c.3331T=	NP_077288.2:p.Tyr1111=
XM_006719593.2:c.3331T=	XP_006719656.1:p.Tyr1111=
XM_011538731.1:c.3250T=	XP_011537033.1:p.Tyr1084=
XM_006719593.3:c.3331T=	XP_006719656.1:p.Tyr1111=
XM_011538731.2:c.3250T=	XP_011537033.1:p.Tyr1084=
XM_017019961.1:c.3115T=	XP_016875450.1:p.Tyr1039=
XM_017019962.2:c.2104T=	XP_016875451.1:p.Tyr702=
NM_024312.5:c.3331T= MANE Select	NP_077288.2:p.Tyr1111=