Canonical Allele Identifier: CA2058964797

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786056G= , CM000674.2:g.101786056G=	GRCh38
NC_000012.11:g.102179834G= , CM000674.1:g.102179834G=	GRCh37
NC_000012.10:g.100703965G=	NCBI36
NG_021243.1:g.49812C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.527C= MANE Select	ENSP00000299314.7:p.Pro176=
ENST00000299314.11:c.527C=	ENSP00000299314.7:p.Pro176=
ENST00000549940.5:c.527C=	ENSP00000449150.1:p.Pro176=
ENST00000550352.1:n.321C=
ENST00000552681.1:c.161C=	ENSP00000449217.1:p.Pro54=
NM_024312.4:c.527C=	NP_077288.2:p.Pro176=
XM_006719593.2:c.527C=	XP_006719656.1:p.Pro176=
XM_011538731.1:c.446C=	XP_011537033.1:p.Pro149=
XM_006719593.3:c.527C=	XP_006719656.1:p.Pro176=
XM_011538731.2:c.446C=	XP_011537033.1:p.Pro149=
XM_017019961.1:c.311C=	XP_016875450.1:p.Pro104=
XM_017019962.2:c.-824C=	XP_016875451.1:n.-824C=
NM_024312.5:c.527C= MANE Select	NP_077288.2:p.Pro176=