Canonical Allele Identifier: CA399600295
Gene: NAGLU HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541140C>T , CM000679.2:g.42541140C>T GRCh38
NC_000017.10:g.40693158C>T , CM000679.1:g.40693158C>T GRCh37
NC_000017.9:g.37946684C>T NCBI36
NG_011552.1:g.10208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.955C>T MANE Select ENSP00000225927.1:p.Pro319Ser
ENST00000225927.6:c.955C>T ENSP00000225927.1:p.Pro319Ser
ENST00000591587.1:c.360-1888C>T ENSP00000467836.1:n.360-1888C>T
ENST00000592454.1:c.50C>T
NM_000263.3:c.955C>T NP_000254.2:p.Pro319Ser
XM_006721920.2:c.124C>T XP_006721983.1:p.Pro42Ser
XM_011524840.1:c.23-1888C>T XP_011523142.1:n.23-1888C>T
XM_017024687.1:c.124C>T XP_016880176.1:p.Pro42Ser
XM_024450771.1:c.1012C>T XP_024306539.1:p.Pro338Ser
XM_024450772.1:c.23-1888C>T XP_024306540.1:n.23-1888C>T
NM_000263.4:c.955C>T MANE Select NP_000254.2:p.Pro319Ser