Canonical Allele Identifier: CA343354
Gene: GNPTAB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39037
ClinVar RCV Id: RCV000032302
dbSNP Id: rs281864949

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101796718dup , CM000674.2:g.101796718dup GRCh38
NC_000012.11:g.102190496dup , CM000674.1:g.102190496dup GRCh37
NC_000012.10:g.100714627dup NCBI36
NG_021243.1:g.39151dup

Transcript Alleles

HGVS Amino-acid change
NM_024312.4:c.163dup VV NP_077288.2:p.Ser55PhefsTer3
XM_006719593.2:c.163dup XP_006719656.1:p.Ser55PhefsTer3
XM_011538731.1:c.82dup XP_011537033.1:p.Ser28PhefsTer3
XM_006719593.3:c.163dup XP_006719656.1:p.Ser55PhefsTer3
XM_011538731.2:c.82dup XP_011537033.1:p.Ser28PhefsTer3
XM_017019961.1:c.-54dup XP_016875450.1:p.=
XM_017019962.2:c.-1188dup XP_016875451.1:p.=
NM_024312.5:c.163dup VV MANE Preferred NP_077288.2:p.Ser55PhefsTer3
ENST00000299314.11:c.163dup ENSP00000299314.7:p.Ser55PhefsTer3
ENST00000392919.4:c.163dup ENSP00000376651.4:p.Ser55PhefsTer3
ENST00000549165.1:c.163dup ENSP00000450413.1:p.Ser55PhefsTer3
ENST00000549940.5:c.163dup ENSP00000449150.1:p.Ser55PhefsTer3