Canonical Allele Identifier: CA399596062
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688606T>G (hg19) chr17:g.42536588T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536588T>G , CM000679.2:g.42536588T>G GRCh38
NC_000017.10:g.40688606T>G , CM000679.1:g.40688606T>G GRCh37
NC_000017.9:g.37942132T>G NCBI36
NG_011552.1:g.5656T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.316T>G MANE Select ENSP00000225927.1:p.Ser106Ala
ENST00000225927.6:c.316T>G ENSP00000225927.1:p.Ser106Ala
ENST00000586516.5:c.66T>G
ENST00000591587.1:c.59T>G ENSP00000467836.1:p.Leu20Arg
NM_000263.3:c.316T>G NP_000254.2:p.Ser106Ala
XM_006721920.2:c.-427T>G XP_006721983.1:n.-427T>G
XM_011524840.1:c.-427T>G XP_011523142.1:n.-427T>G
XM_024450771.1:c.316T>G XP_024306539.1:p.Ser106Ala
NM_000263.4:c.316T>G MANE Select NP_000254.2:p.Ser106Ala
Search 100 bp 5'
Search 100 bp 3'