Canonical Allele Identifier: CA2576295392
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538618T>C , CM000679.2:g.42538618T>C GRCh38
NC_000017.10:g.40690636T>C , CM000679.1:g.40690636T>C GRCh37
NC_000017.9:g.37944162T>C NCBI36
NG_011552.1:g.7686T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.679-52T>C MANE Select ENSP00000225927.1:n.679-52T>C
ENST00000225927.6:c.679-52T>C ENSP00000225927.1:n.679-52T>C
ENST00000586516.5:c.281-52T>C
ENST00000591587.1:c.274-52T>C ENSP00000467836.1:n.274-52T>C
NM_000263.3:c.679-52T>C NP_000254.2:n.679-52T>C
XM_006721920.2:c.-64-52T>C XP_006721983.1:n.-64-52T>C
XM_011524840.1:c.-64-52T>C XP_011523142.1:n.-64-52T>C
XM_017024687.1:c.-64-52T>C XP_016880176.1:n.-64-52T>C
XM_024450771.1:c.736-52T>C XP_024306539.1:n.736-52T>C
XM_024450772.1:c.-64-52T>C XP_024306540.1:n.-64-52T>C
NM_000263.4:c.679-52T>C MANE Select NP_000254.2:n.679-52T>C