Canonical Allele Identifier: CA399596178

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536612-C-A
• MyVariant Identifiers: chr17:g.40688630C>A (hg19) ; chr17:g.42536612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536612C>A , CM000679.2:g.42536612C>A	GRCh38
NC_000017.10:g.40688630C>A , CM000679.1:g.40688630C>A	GRCh37
NC_000017.9:g.37942156C>A	NCBI36
NG_011552.1:g.5680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.340C>A MANE Select	ENSP00000225927.1:p.Leu114Met
ENST00000225927.6:c.340C>A	ENSP00000225927.1:p.Leu114Met
ENST00000586516.5:c.90C>A
ENST00000591587.1:c.83C>A	ENSP00000467836.1:p.Thr28Asn
NM_000263.3:c.340C>A	NP_000254.2:p.Leu114Met
XM_006721920.2:c.-403C>A	XP_006721983.1:n.-403C>A
XM_011524840.1:c.-403C>A	XP_011523142.1:n.-403C>A
XM_024450771.1:c.340C>A	XP_024306539.1:p.Leu114Met
NM_000263.4:c.340C>A MANE Select	NP_000254.2:p.Leu114Met