Canonical Allele Identifier: CA2637966619
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536750-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536750G>A , CM000679.2:g.42536750G>A GRCh38
NC_000017.10:g.40688768G>A , CM000679.1:g.40688768G>A GRCh37
NC_000017.9:g.37942294G>A NCBI36
NG_011552.1:g.5818G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+95G>A MANE Select ENSP00000225927.1:n.383+95G>A
ENST00000225927.6:c.383+95G>A ENSP00000225927.1:n.383+95G>A
ENST00000586516.5:c.133+95G>A
ENST00000591587.1:c.126+95G>A ENSP00000467836.1:n.126+95G>A
NM_000263.3:c.383+95G>A NP_000254.2:n.383+95G>A
XM_006721920.2:c.-360+95G>A XP_006721983.1:n.-360+95G>A
XM_011524840.1:c.-360+95G>A XP_011523142.1:n.-360+95G>A
XM_024450771.1:c.384-67G>A XP_024306539.1:n.384-67G>A
NM_000263.4:c.383+95G>A MANE Select NP_000254.2:n.383+95G>A
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