Canonical Allele Identifier: CA2058950549

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753412A= , CM000674.2:g.101753412A=	GRCh38
NC_000012.11:g.102147190A= , CM000674.1:g.102147190A=	GRCh37
NC_000012.10:g.100671321A=	NCBI36
NG_021243.1:g.82456T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3562T= MANE Select	ENSP00000299314.7:p.Tyr1188=
ENST00000299314.11:c.3562T=	ENSP00000299314.7:p.Tyr1188=
ENST00000549738.5:c.460T=	ENSP00000450161.1:n.460T=
NM_024312.4:c.3562T=	NP_077288.2:p.Tyr1188=
XM_011538731.1:c.3481T=	XP_011537033.1:p.Tyr1161=
XM_011538731.2:c.3481T=	XP_011537033.1:p.Tyr1161=
XM_017019961.1:c.3346T=	XP_016875450.1:p.Tyr1116=
XM_017019962.2:c.2335T=	XP_016875451.1:p.Tyr779=
NM_024312.5:c.3562T= MANE Select	NP_077288.2:p.Tyr1188=