Canonical Allele Identifier: CA2260530603
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544085A= , CM000679.2:g.42544085A= GRCh38
NC_000017.10:g.40696103A= , CM000679.1:g.40696103A= GRCh37
NC_000017.9:g.37949629A= NCBI36
NG_011552.1:g.13153A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2079A= MANE Select ENSP00000225927.1:p.Gln693=
ENST00000225927.6:c.2079A= ENSP00000225927.1:p.Gln693=
ENST00000591587.1:c.1417A= ENSP00000467836.1:n.1417A=
NM_000263.3:c.2079A= NP_000254.2:p.Gln693=
XM_006721920.2:c.1248A= XP_006721983.1:p.Gln416=
XM_011524840.1:c.1080A= XP_011523142.1:p.Gln360=
XM_017024687.1:c.1248A= XP_016880176.1:p.Gln416=
XM_024450771.1:c.2136A= XP_024306539.1:p.Gln712=
XM_024450772.1:c.1080A= XP_024306540.1:p.Gln360=
NM_000263.4:c.2079A= MANE Select NP_000254.2:p.Gln693=