Canonical Allele Identifier: CA2058950552

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753420G= , CM000674.2:g.101753420G=	GRCh38
NC_000012.11:g.102147198G= , CM000674.1:g.102147198G=	GRCh37
NC_000012.10:g.100671329G=	NCBI36
NG_021243.1:g.82448C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3554C= MANE Select	ENSP00000299314.7:p.Pro1185=
ENST00000299314.11:c.3554C=	ENSP00000299314.7:p.Pro1185=
ENST00000549738.5:c.452C=	ENSP00000450161.1:n.452C=
NM_024312.4:c.3554C=	NP_077288.2:p.Pro1185=
XM_011538731.1:c.3473C=	XP_011537033.1:p.Pro1158=
XM_011538731.2:c.3473C=	XP_011537033.1:p.Pro1158=
XM_017019961.1:c.3338C=	XP_016875450.1:p.Pro1113=
XM_017019962.2:c.2327C=	XP_016875451.1:p.Pro776=
NM_024312.5:c.3554C= MANE Select	NP_077288.2:p.Pro1185=