Canonical Allele Identifier: CA399595338
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536387C>G , CM000679.2:g.42536387C>G GRCh38
NC_000017.10:g.40688405C>G , CM000679.1:g.40688405C>G GRCh37
NC_000017.9:g.37941931C>G NCBI36
NG_011552.1:g.5455C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.115C>G MANE Select ENSP00000225927.1:p.Leu39Val
ENST00000225927.6:c.115C>G ENSP00000225927.1:p.Leu39Val
NM_000263.3:c.115C>G NP_000254.2:p.Leu39Val
XM_024450771.1:c.115C>G XP_024306539.1:p.Leu39Val
NM_000263.4:c.115C>G MANE Select NP_000254.2:p.Leu39Val