Canonical Allele Identifier: CA399596229

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536621-G-A
• MyVariant Identifiers: chr17:g.40688639G>A (hg19) ; chr17:g.42536621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536621G>A , CM000679.2:g.42536621G>A	GRCh38
NC_000017.10:g.40688639G>A , CM000679.1:g.40688639G>A	GRCh37
NC_000017.9:g.37942165G>A	NCBI36
NG_011552.1:g.5689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.349G>A MANE Select	ENSP00000225927.1:p.Val117Met
ENST00000225927.6:c.349G>A	ENSP00000225927.1:p.Val117Met
ENST00000586516.5:c.99G>A
ENST00000591587.1:c.92G>A	ENSP00000467836.1:p.Arg31His
NM_000263.3:c.349G>A	NP_000254.2:p.Val117Met
XM_006721920.2:c.-394G>A	XP_006721983.1:n.-394G>A
XM_011524840.1:c.-394G>A	XP_011523142.1:n.-394G>A
XM_024450771.1:c.349G>A	XP_024306539.1:p.Val117Met
NM_000263.4:c.349G>A MANE Select	NP_000254.2:p.Val117Met