Canonical Allele Identifier: CA2058964929
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786340A= , CM000674.2:g.101786340A= GRCh38
NC_000012.11:g.102180118A= , CM000674.1:g.102180118A= GRCh37
NC_000012.10:g.100704249A= NCBI36
NG_021243.1:g.49528T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.366-123T= MANE Select ENSP00000299314.7:n.366-123T=
ENST00000299314.11:c.366-123T= ENSP00000299314.7:n.366-123T=
ENST00000549940.5:c.366-123T= ENSP00000449150.1:n.366-123T=
ENST00000550352.1:n.160-123T=
NM_024312.4:c.366-123T= NP_077288.2:n.366-123T=
XM_006719593.2:c.366-123T= XP_006719656.1:n.366-123T=
XM_011538731.1:c.285-123T= XP_011537033.1:n.285-123T=
XM_006719593.3:c.366-123T= XP_006719656.1:n.366-123T=
XM_011538731.2:c.285-123T= XP_011537033.1:n.285-123T=
XM_017019961.1:c.150-123T= XP_016875450.1:n.150-123T=
XM_017019962.2:c.-985-123T= XP_016875451.1:n.-985-123T=
NM_024312.5:c.366-123T= MANE Select NP_077288.2:n.366-123T=