Canonical Allele Identifier: CA399604514
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543703A>T , CM000679.2:g.42543703A>T GRCh38
NC_000017.10:g.40695721A>T , CM000679.1:g.40695721A>T GRCh37
NC_000017.9:g.37949247A>T NCBI36
NG_011552.1:g.12771A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1697A>T MANE Select ENSP00000225927.1:p.Gln566Leu
ENST00000225927.6:c.1697A>T ENSP00000225927.1:p.Gln566Leu
ENST00000591587.1:c.1035A>T ENSP00000467836.1:n.1035A>T
NM_000263.3:c.1697A>T NP_000254.2:p.Gln566Leu
XM_006721920.2:c.866A>T XP_006721983.1:p.Gln289Leu
XM_011524840.1:c.698A>T XP_011523142.1:p.Gln233Leu
XM_017024687.1:c.866A>T XP_016880176.1:p.Gln289Leu
XM_024450771.1:c.1754A>T XP_024306539.1:p.Gln585Leu
XM_024450772.1:c.698A>T XP_024306540.1:p.Gln233Leu
NM_000263.4:c.1697A>T MANE Select NP_000254.2:p.Gln566Leu