Canonical Allele Identifier: CA2058953069

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761618G= , CM000674.2:g.101761618G=	GRCh38
NC_000012.11:g.102155396G= , CM000674.1:g.102155396G=	GRCh37
NC_000012.10:g.100679527G=	NCBI36
NG_021243.1:g.74250C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2861C= MANE Select	ENSP00000299314.7:p.Pro954=
ENST00000299314.11:c.2861C=	ENSP00000299314.7:p.Pro954=
NM_024312.4:c.2861C=	NP_077288.2:p.Pro954=
XM_006719593.2:c.2861C=	XP_006719656.1:p.Pro954=
XM_011538731.1:c.2780C=	XP_011537033.1:p.Pro927=
XM_006719593.3:c.2861C=	XP_006719656.1:p.Pro954=
XM_011538731.2:c.2780C=	XP_011537033.1:p.Pro927=
XM_017019961.1:c.2645C=	XP_016875450.1:p.Pro882=
XM_017019962.2:c.1634C=	XP_016875451.1:p.Pro545=
NM_024312.5:c.2861C= MANE Select	NP_077288.2:p.Pro954=