Canonical Allele Identifier: CA399596236
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688640T>G (hg19) chr17:g.42536622T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536622T>G , CM000679.2:g.42536622T>G GRCh38
NC_000017.10:g.40688640T>G , CM000679.1:g.40688640T>G GRCh37
NC_000017.9:g.37942166T>G NCBI36
NG_011552.1:g.5690T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.350T>G MANE Select ENSP00000225927.1:p.Val117Gly
ENST00000225927.6:c.350T>G ENSP00000225927.1:p.Val117Gly
ENST00000586516.5:c.100T>G
ENST00000591587.1:c.93T>G ENSP00000467836.1:p.Arg31=
NM_000263.3:c.350T>G NP_000254.2:p.Val117Gly
XM_006721920.2:c.-393T>G XP_006721983.1:n.-393T>G
XM_011524840.1:c.-393T>G XP_011523142.1:n.-393T>G
XM_024450771.1:c.350T>G XP_024306539.1:p.Val117Gly
NM_000263.4:c.350T>G MANE Select NP_000254.2:p.Val117Gly
Search 100 bp 5'
Search 100 bp 3'