Canonical Allele Identifier: CA2637966442
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536697-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536697C>G , CM000679.2:g.42536697C>G GRCh38
NC_000017.10:g.40688715C>G , CM000679.1:g.40688715C>G GRCh37
NC_000017.9:g.37942241C>G NCBI36
NG_011552.1:g.5765C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+42C>G MANE Select ENSP00000225927.1:n.383+42C>G
ENST00000225927.6:c.383+42C>G ENSP00000225927.1:n.383+42C>G
ENST00000586516.5:c.133+42C>G
ENST00000591587.1:c.126+42C>G ENSP00000467836.1:n.126+42C>G
NM_000263.3:c.383+42C>G NP_000254.2:n.383+42C>G
XM_006721920.2:c.-360+42C>G XP_006721983.1:n.-360+42C>G
XM_011524840.1:c.-360+42C>G XP_011523142.1:n.-360+42C>G
XM_024450771.1:c.383+42C>G XP_024306539.1:n.383+42C>G
NM_000263.4:c.383+42C>G MANE Select NP_000254.2:n.383+42C>G
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