Canonical Allele Identifier: CA2058958046
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770597A= , CM000674.2:g.101770597A= GRCh38
NC_000012.11:g.102164375A= , CM000674.1:g.102164375A= GRCh37
NC_000012.10:g.100688506A= NCBI36
NG_021243.1:g.65271T=

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.934-12T= MANE Select ENSP00000299314.7:n.934-12T=
ENST00000299314.11:c.934-12T= ENSP00000299314.7:n.934-12T=
ENST00000549940.5:c.934-12T= ENSP00000449150.1:n.934-12T=
NM_024312.4:c.934-12T= NP_077288.2:n.934-12T=
XM_006719593.2:c.934-12T= XP_006719656.1:n.934-12T=
XM_011538731.1:c.853-12T= XP_011537033.1:n.853-12T=
XM_006719593.3:c.934-12T= XP_006719656.1:n.934-12T=
XM_011538731.2:c.853-12T= XP_011537033.1:n.853-12T=
XM_017019961.1:c.718-12T= XP_016875450.1:n.718-12T=
XM_017019962.2:c.-306T= XP_016875451.1:n.-306T=
NM_024312.5:c.934-12T= MANE Select NP_077288.2:n.934-12T=