Canonical Allele Identifier: CA2058952448

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761201G= , CM000674.2:g.101761201G=	GRCh38
NC_000012.11:g.102154979G= , CM000674.1:g.102154979G=	GRCh37
NC_000012.10:g.100679110G=	NCBI36
NG_021243.1:g.74667C=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3061C= MANE Select	NP_077288.2:p.Gln1021=
ENST00000299314.12:c.3061C= MANE Select	ENSP00000299314.7:p.Gln1021=
NM_024312.4:c.3061C=	NP_077288.2:p.Gln1021=
ENST00000299314.11:c.3061C=	ENSP00000299314.7:p.Gln1021=
XM_006719593.2:c.3061C=	XP_006719656.1:p.Gln1021=
XM_006719593.3:c.3061C=	XP_006719656.1:p.Gln1021=
XM_011538731.1:c.2980C=	XP_011537033.1:p.Gln994=
XM_011538731.2:c.2980C=	XP_011537033.1:p.Gln994=
XM_017019961.1:c.2845C=	XP_016875450.1:p.Gln949=
XM_017019962.2:c.1834C=	XP_016875451.1:p.Gln612=