Canonical Allele Identifier: CA2058958098
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770725C= , CM000674.2:g.101770725C= GRCh38
NC_000012.11:g.102164503C= , CM000674.1:g.102164503C= GRCh37
NC_000012.10:g.100688634C= NCBI36
NG_021243.1:g.65143G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.934-140G= MANE Select ENSP00000299314.7:n.934-140G=
ENST00000299314.11:c.934-140G= ENSP00000299314.7:n.934-140G=
ENST00000549940.5:c.934-140G= ENSP00000449150.1:n.934-140G=
NM_024312.4:c.934-140G= NP_077288.2:n.934-140G=
XM_006719593.2:c.934-140G= XP_006719656.1:n.934-140G=
XM_011538731.1:c.853-140G= XP_011537033.1:n.853-140G=
XM_006719593.3:c.934-140G= XP_006719656.1:n.934-140G=
XM_011538731.2:c.853-140G= XP_011537033.1:n.853-140G=
XM_017019961.1:c.718-140G= XP_016875450.1:n.718-140G=
XM_017019962.2:c.-417-17G= XP_016875451.1:n.-417-17G=
NM_024312.5:c.934-140G= MANE Select NP_077288.2:n.934-140G=