Canonical Allele Identifier: CA2058958056
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770615T= , CM000674.2:g.101770615T= GRCh38
NC_000012.11:g.102164393T= , CM000674.1:g.102164393T= GRCh37
NC_000012.10:g.100688524T= NCBI36
NG_021243.1:g.65253A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.934-30A= MANE Select ENSP00000299314.7:n.934-30A=
ENST00000299314.11:c.934-30A= ENSP00000299314.7:n.934-30A=
ENST00000549940.5:c.934-30A= ENSP00000449150.1:n.934-30A=
NM_024312.4:c.934-30A= NP_077288.2:n.934-30A=
XM_006719593.2:c.934-30A= XP_006719656.1:n.934-30A=
XM_011538731.1:c.853-30A= XP_011537033.1:n.853-30A=
XM_006719593.3:c.934-30A= XP_006719656.1:n.934-30A=
XM_011538731.2:c.853-30A= XP_011537033.1:n.853-30A=
XM_017019961.1:c.718-30A= XP_016875450.1:n.718-30A=
XM_017019962.2:c.-324A= XP_016875451.1:n.-324A=
NM_024312.5:c.934-30A= MANE Select NP_077288.2:n.934-30A=