Canonical Allele Identifier: CA2260526960
Gene: NAGLU HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536797C= , CM000679.2:g.42536797C= GRCh38
NC_000017.10:g.40688815C= , CM000679.1:g.40688815C= GRCh37
NC_000017.9:g.37942341C= NCBI36
NG_011552.1:g.5865C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+142C= MANE Select ENSP00000225927.1:n.383+142C=
ENST00000225927.6:c.383+142C= ENSP00000225927.1:n.383+142C=
ENST00000586516.5:c.133+142C=
ENST00000591587.1:c.126+142C= ENSP00000467836.1:n.126+142C=
NM_000263.3:c.383+142C= NP_000254.2:n.383+142C=
XM_006721920.2:c.-360+142C= XP_006721983.1:n.-360+142C=
XM_011524840.1:c.-360+142C= XP_011523142.1:n.-360+142C=
XM_024450771.1:c.384-20C= XP_024306539.1:n.384-20C=
NM_000263.4:c.383+142C= MANE Select NP_000254.2:n.383+142C=
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