Canonical Allele Identifier: CA399605524
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1285882856

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543937A>G , CM000679.2:g.42543937A>G GRCh38
NC_000017.10:g.40695955A>G , CM000679.1:g.40695955A>G GRCh37
NC_000017.9:g.37949481A>G NCBI36
NG_011552.1:g.13005A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1931A>G MANE Select ENSP00000225927.1:p.Tyr644Cys
ENST00000225927.6:c.1931A>G ENSP00000225927.1:p.Tyr644Cys
ENST00000591587.1:c.1269A>G ENSP00000467836.1:n.1269A>G
NM_000263.3:c.1931A>G NP_000254.2:p.Tyr644Cys
XM_006721920.2:c.1100A>G XP_006721983.1:p.Tyr367Cys
XM_011524840.1:c.932A>G XP_011523142.1:p.Tyr311Cys
XM_017024687.1:c.1100A>G XP_016880176.1:p.Tyr367Cys
XM_024450771.1:c.1988A>G XP_024306539.1:p.Tyr663Cys
XM_024450772.1:c.932A>G XP_024306540.1:p.Tyr311Cys
NM_000263.4:c.1931A>G MANE Select NP_000254.2:p.Tyr644Cys