Canonical Allele Identifier: CA399606545
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544231C>T , CM000679.2:g.42544231C>T GRCh38
NC_000017.10:g.40696249C>T , CM000679.1:g.40696249C>T GRCh37
NC_000017.9:g.37949775C>T NCBI36
NG_011552.1:g.13299C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2225C>T MANE Select ENSP00000225927.1:p.Ser742Phe
ENST00000225927.6:c.2225C>T ENSP00000225927.1:p.Ser742Phe
NM_000263.3:c.2225C>T NP_000254.2:p.Ser742Phe
XM_006721920.2:c.1394C>T XP_006721983.1:p.Ser465Phe
XM_011524840.1:c.1226C>T XP_011523142.1:p.Ser409Phe
XM_017024687.1:c.1394C>T XP_016880176.1:p.Ser465Phe
XM_024450771.1:c.2282C>T XP_024306539.1:p.Ser761Phe
XM_024450772.1:c.1226C>T XP_024306540.1:p.Ser409Phe
NM_000263.4:c.2225C>T MANE Select NP_000254.2:p.Ser742Phe