Canonical Allele Identifier: CA2260526935
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536747C= , CM000679.2:g.42536747C= GRCh38
NC_000017.10:g.40688765C= , CM000679.1:g.40688765C= GRCh37
NC_000017.9:g.37942291C= NCBI36
NG_011552.1:g.5815C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+92C= MANE Select ENSP00000225927.1:n.383+92C=
ENST00000225927.6:c.383+92C= ENSP00000225927.1:n.383+92C=
ENST00000586516.5:c.133+92C=
ENST00000591587.1:c.126+92C= ENSP00000467836.1:n.126+92C=
NM_000263.3:c.383+92C= NP_000254.2:n.383+92C=
XM_006721920.2:c.-360+92C= XP_006721983.1:n.-360+92C=
XM_011524840.1:c.-360+92C= XP_011523142.1:n.-360+92C=
XM_024450771.1:c.384-70C= XP_024306539.1:n.384-70C=
NM_000263.4:c.383+92C= MANE Select NP_000254.2:n.383+92C=