Canonical Allele Identifier: CA399596064

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536589-C-A
• MyVariant Identifiers: chr17:g.40688607C>A (hg19) ; chr17:g.42536589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536589C>A , CM000679.2:g.42536589C>A	GRCh38
NC_000017.10:g.40688607C>A , CM000679.1:g.40688607C>A	GRCh37
NC_000017.9:g.37942133C>A	NCBI36
NG_011552.1:g.5657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.317C>A MANE Select	ENSP00000225927.1:p.Ser106Tyr
ENST00000225927.6:c.317C>A	ENSP00000225927.1:p.Ser106Tyr
ENST00000586516.5:c.67C>A
ENST00000591587.1:c.60C>A	ENSP00000467836.1:p.Leu20=
NM_000263.3:c.317C>A	NP_000254.2:p.Ser106Tyr
XM_006721920.2:c.-426C>A	XP_006721983.1:n.-426C>A
XM_011524840.1:c.-426C>A	XP_011523142.1:n.-426C>A
XM_024450771.1:c.317C>A	XP_024306539.1:p.Ser106Tyr
NM_000263.4:c.317C>A MANE Select	NP_000254.2:p.Ser106Tyr