Canonical Allele Identifier: CA481327961

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102190529T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796751T>C , CM000674.2:g.101796751T>C	GRCh38
NC_000012.11:g.102190529T>C , CM000674.1:g.102190529T>C	GRCh37
NC_000012.10:g.100714660T>C	NCBI36
NG_021243.1:g.39117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.129A>G MANE Select	ENSP00000299314.7:p.Glu43=
ENST00000647144.1:n.249A>G
ENST00000299314.11:c.129A>G	ENSP00000299314.7:p.Glu43=
ENST00000392919.4:c.129A>G	ENSP00000376651.4:p.Glu43=
ENST00000549165.1:c.129A>G	ENSP00000450413.1:p.Glu43=
ENST00000549940.5:c.129A>G	ENSP00000449150.1:p.Glu43=
NM_024312.4:c.129A>G	NP_077288.2:p.Glu43=
XM_006719593.2:c.129A>G	XP_006719656.1:p.Glu43=
XM_011538731.1:c.48A>G	XP_011537033.1:p.Glu16=
XM_006719593.3:c.129A>G	XP_006719656.1:p.Glu43=
XM_011538731.2:c.48A>G	XP_011537033.1:p.Glu16=
XM_017019961.1:c.-88A>G	XP_016875450.1:n.-88A>G
XM_017019962.2:c.-1222A>G	XP_016875451.1:n.-1222A>G
NM_024312.5:c.129A>G MANE Select	NP_077288.2:p.Glu43=