Canonical Allele Identifier: CA2058958054
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770611G= , CM000674.2:g.101770611G= GRCh38
NC_000012.11:g.102164389G= , CM000674.1:g.102164389G= GRCh37
NC_000012.10:g.100688520G= NCBI36
NG_021243.1:g.65257C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.934-26C= MANE Select ENSP00000299314.7:n.934-26C=
ENST00000299314.11:c.934-26C= ENSP00000299314.7:n.934-26C=
ENST00000549940.5:c.934-26C= ENSP00000449150.1:n.934-26C=
NM_024312.4:c.934-26C= NP_077288.2:n.934-26C=
XM_006719593.2:c.934-26C= XP_006719656.1:n.934-26C=
XM_011538731.1:c.853-26C= XP_011537033.1:n.853-26C=
XM_006719593.3:c.934-26C= XP_006719656.1:n.934-26C=
XM_011538731.2:c.853-26C= XP_011537033.1:n.853-26C=
XM_017019961.1:c.718-26C= XP_016875450.1:n.718-26C=
XM_017019962.2:c.-320C= XP_016875451.1:n.-320C=
NM_024312.5:c.934-26C= MANE Select NP_077288.2:n.934-26C=