Canonical Allele Identifier: CA2058964843

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786143G= , CM000674.2:g.101786143G=	GRCh38
NC_000012.11:g.102179921G= , CM000674.1:g.102179921G=	GRCh37
NC_000012.10:g.100704052G=	NCBI36
NG_021243.1:g.49725C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.440C= MANE Select	ENSP00000299314.7:p.Ala147=
ENST00000299314.11:c.440C=	ENSP00000299314.7:p.Ala147=
ENST00000549940.5:c.440C=	ENSP00000449150.1:p.Ala147=
ENST00000550352.1:n.234C=
ENST00000552681.1:c.74C=	ENSP00000449217.1:p.Ala25=
NM_024312.4:c.440C=	NP_077288.2:p.Ala147=
XM_006719593.2:c.440C=	XP_006719656.1:p.Ala147=
XM_011538731.1:c.359C=	XP_011537033.1:p.Ala120=
XM_006719593.3:c.440C=	XP_006719656.1:p.Ala147=
XM_011538731.2:c.359C=	XP_011537033.1:p.Ala120=
XM_017019961.1:c.224C=	XP_016875450.1:p.Ala75=
XM_017019962.2:c.-911C=	XP_016875451.1:n.-911C=
NM_024312.5:c.440C= MANE Select	NP_077288.2:p.Ala147=