Canonical Allele Identifier: CA481577899

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102163943C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770165C>T , CM000674.2:g.101770165C>T	GRCh38
NC_000012.11:g.102163943C>T , CM000674.1:g.102163943C>T	GRCh37
NC_000012.10:g.100688074C>T	NCBI36
NG_021243.1:g.65703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1140G>A MANE Select	ENSP00000299314.7:p.Leu380=
ENST00000299314.11:c.1140G>A	ENSP00000299314.7:p.Leu380=
ENST00000549940.5:c.1140G>A	ENSP00000449150.1:p.Leu380=
NM_024312.4:c.1140G>A	NP_077288.2:p.Leu380=
XM_006719593.2:c.1140G>A	XP_006719656.1:p.Leu380=
XM_011538731.1:c.1059G>A	XP_011537033.1:p.Leu353=
XM_006719593.3:c.1140G>A	XP_006719656.1:p.Leu380=
XM_011538731.2:c.1059G>A	XP_011537033.1:p.Leu353=
XM_017019961.1:c.924G>A	XP_016875450.1:p.Leu308=
XM_017019962.2:c.-88G>A	XP_016875451.1:n.-88G>A
NM_024312.5:c.1140G>A MANE Select	NP_077288.2:p.Leu380=