Canonical Allele Identifier: CA2260527826
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538389T= , CM000679.2:g.42538389T= GRCh38
NC_000017.10:g.40690407T= , CM000679.1:g.40690407T= GRCh37
NC_000017.9:g.37943933T= NCBI36
NG_011552.1:g.7457T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.582T= MANE Select ENSP00000225927.1:p.Thr194=
ENST00000225927.6:c.582T= ENSP00000225927.1:p.Thr194=
ENST00000586516.5:c.184T=
ENST00000591587.1:c.177T= ENSP00000467836.1:p.Thr59=
NM_000263.3:c.582T= NP_000254.2:p.Thr194=
XM_006721920.2:c.-161T= XP_006721983.1:n.-161T=
XM_011524840.1:c.-161T= XP_011523142.1:n.-161T=
XM_017024687.1:c.-161T= XP_016880176.1:n.-161T=
XM_024450771.1:c.639T= XP_024306539.1:p.Thr213=
XM_024450772.1:c.-161T= XP_024306540.1:n.-161T=
NM_000263.4:c.582T= MANE Select NP_000254.2:p.Thr194=