Canonical Allele Identifier: CA2058950551

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753419T= , CM000674.2:g.101753419T=	GRCh38
NC_000012.11:g.102147197T= , CM000674.1:g.102147197T=	GRCh37
NC_000012.10:g.100671328T=	NCBI36
NG_021243.1:g.82449A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3555A= MANE Select	ENSP00000299314.7:p.Pro1185=
ENST00000299314.11:c.3555A=	ENSP00000299314.7:p.Pro1185=
ENST00000549738.5:c.453A=	ENSP00000450161.1:n.453A=
NM_024312.4:c.3555A=	NP_077288.2:p.Pro1185=
XM_011538731.1:c.3474A=	XP_011537033.1:p.Pro1158=
XM_011538731.2:c.3474A=	XP_011537033.1:p.Pro1158=
XM_017019961.1:c.3339A=	XP_016875450.1:p.Pro1113=
XM_017019962.2:c.2328A=	XP_016875451.1:p.Pro776=
NM_024312.5:c.3555A= MANE Select	NP_077288.2:p.Pro1185=