Canonical Allele Identifier: CA2058953274
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761764C= , CM000674.2:g.101761764C= GRCh38
NC_000012.11:g.102155542C= , CM000674.1:g.102155542C= GRCh37
NC_000012.10:g.100679673C= NCBI36
NG_021243.1:g.74104G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2716-1G= MANE Select ENSP00000299314.7:n.2716-1G=
ENST00000299314.11:c.2716-1G= ENSP00000299314.7:n.2716-1G=
NM_024312.4:c.2716-1G= NP_077288.2:n.2716-1G=
XM_006719593.2:c.2716-1G= XP_006719656.1:n.2716-1G=
XM_011538731.1:c.2635-1G= XP_011537033.1:n.2635-1G=
XM_006719593.3:c.2716-1G= XP_006719656.1:n.2716-1G=
XM_011538731.2:c.2635-1G= XP_011537033.1:n.2635-1G=
XM_017019961.1:c.2500-1G= XP_016875450.1:n.2500-1G=
XM_017019962.2:c.1489-1G= XP_016875451.1:n.1489-1G=
NM_024312.5:c.2716-1G= MANE Select NP_077288.2:n.2716-1G=