Canonical Allele Identifier: CA481318458

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153832C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760054C>T , CM000674.2:g.101760054C>T	GRCh38
NC_000012.11:g.102153832C>T , CM000674.1:g.102153832C>T	GRCh37
NC_000012.10:g.100677963C>T	NCBI36
NG_021243.1:g.75814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3225G>A MANE Select	ENSP00000299314.7:p.Gln1075=
ENST00000299314.11:c.3225G>A	ENSP00000299314.7:p.Gln1075=
ENST00000549194.1:n.91G>A
ENST00000550718.1:c.37G>A
NM_024312.4:c.3225G>A	NP_077288.2:p.Gln1075=
XM_006719593.2:c.3225G>A	XP_006719656.1:p.Gln1075=
XM_011538731.1:c.3144G>A	XP_011537033.1:p.Gln1048=
XM_006719593.3:c.3225G>A	XP_006719656.1:p.Gln1075=
XM_011538731.2:c.3144G>A	XP_011537033.1:p.Gln1048=
XM_017019961.1:c.3009G>A	XP_016875450.1:p.Gln1003=
XM_017019962.2:c.1998G>A	XP_016875451.1:p.Gln666=
NM_024312.5:c.3225G>A MANE Select	NP_077288.2:p.Gln1075=