Canonical Allele Identifier: CA2058985051

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830433T= , CM000674.2:g.101830433T=	GRCh38
NC_000012.11:g.102224211T= , CM000674.1:g.102224211T=	GRCh37
NC_000012.10:g.100748342T=	NCBI36
NG_021243.1:g.5435A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.117+126A= MANE Select	ENSP00000299314.7:n.117+126A=
ENST00000647144.1:n.105+126A=
ENST00000299314.11:c.117+126A=	ENSP00000299314.7:n.117+126A=
ENST00000392919.4:c.117+126A=	ENSP00000376651.4:n.117+126A=
ENST00000549165.1:c.117+126A=	ENSP00000450413.1:n.117+126A=
ENST00000549940.5:c.117+126A=	ENSP00000449150.1:n.117+126A=
NM_024312.4:c.117+126A=	NP_077288.2:n.117+126A=
XM_006719593.2:c.117+126A=	XP_006719656.1:n.117+126A=
XM_006719593.3:c.117+126A=	XP_006719656.1:n.117+126A=
XM_017019961.1:c.-100+193A=	XP_016875450.1:n.-100+193A=
XM_017019962.2:c.-1234+126A=	XP_016875451.1:n.-1234+126A=
NM_024312.5:c.117+126A= MANE Select	NP_077288.2:n.117+126A=