Canonical Allele Identifier: CA399605017
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2941964
ClinVar RCV Id: RCV003802986
dbSNP Id: rs1198292626

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543834C>A , CM000679.2:g.42543834C>A GRCh38
NC_000017.10:g.40695852C>A , CM000679.1:g.40695852C>A GRCh37
NC_000017.9:g.37949378C>A NCBI36
NG_011552.1:g.12902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1828C>A MANE Select ENSP00000225927.1:p.Leu610Met
ENST00000225927.6:c.1828C>A ENSP00000225927.1:p.Leu610Met
ENST00000591587.1:c.1166C>A ENSP00000467836.1:n.1166C>A
NM_000263.3:c.1828C>A NP_000254.2:p.Leu610Met
XM_006721920.2:c.997C>A XP_006721983.1:p.Leu333Met
XM_011524840.1:c.829C>A XP_011523142.1:p.Leu277Met
XM_017024687.1:c.997C>A XP_016880176.1:p.Leu333Met
XM_024450771.1:c.1885C>A XP_024306539.1:p.Leu629Met
XM_024450772.1:c.829C>A XP_024306540.1:p.Leu277Met
NM_000263.4:c.1828C>A MANE Select NP_000254.2:p.Leu610Met