Canonical Allele Identifier: CA2260530625
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544132T= , CM000679.2:g.42544132T= GRCh38
NC_000017.10:g.40696150T= , CM000679.1:g.40696150T= GRCh37
NC_000017.9:g.37949676T= NCBI36
NG_011552.1:g.13200T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2126T= MANE Select ENSP00000225927.1:p.Val709=
ENST00000225927.6:c.2126T= ENSP00000225927.1:p.Val709=
ENST00000591587.1:c.1464T= ENSP00000467836.1:n.1464T=
NM_000263.3:c.2126T= NP_000254.2:p.Val709=
XM_006721920.2:c.1295T= XP_006721983.1:p.Val432=
XM_011524840.1:c.1127T= XP_011523142.1:p.Val376=
XM_017024687.1:c.1295T= XP_016880176.1:p.Val432=
XM_024450771.1:c.2183T= XP_024306539.1:p.Val728=
XM_024450772.1:c.1127T= XP_024306540.1:p.Val376=
NM_000263.4:c.2126T= MANE Select NP_000254.2:p.Val709=