Canonical Allele Identifier: CA2637966617
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536749-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536749G>A , CM000679.2:g.42536749G>A GRCh38
NC_000017.10:g.40688767G>A , CM000679.1:g.40688767G>A GRCh37
NC_000017.9:g.37942293G>A NCBI36
NG_011552.1:g.5817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+94G>A MANE Select ENSP00000225927.1:n.383+94G>A
ENST00000225927.6:c.383+94G>A ENSP00000225927.1:n.383+94G>A
ENST00000586516.5:c.133+94G>A
ENST00000591587.1:c.126+94G>A ENSP00000467836.1:n.126+94G>A
NM_000263.3:c.383+94G>A NP_000254.2:n.383+94G>A
XM_006721920.2:c.-360+94G>A XP_006721983.1:n.-360+94G>A
XM_011524840.1:c.-360+94G>A XP_011523142.1:n.-360+94G>A
XM_024450771.1:c.384-68G>A XP_024306539.1:n.384-68G>A
NM_000263.4:c.383+94G>A MANE Select NP_000254.2:n.383+94G>A
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