Canonical Allele Identifier: CA290773081

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2929035
• ClinVar RCV Id: RCV003781761
• dbSNP Id: rs977518446
• gnomAD v3: 17-42538328-T-G
• gnomAD v4: 17-42538328-T-G
• MyVariant Identifiers: chr17:g.40690346T>G (hg19) ; chr17:g.42538328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538328T>G , CM000679.2:g.42538328T>G	GRCh38
NC_000017.10:g.40690346T>G , CM000679.1:g.40690346T>G	GRCh37
NC_000017.9:g.37943872T>G	NCBI36
NG_011552.1:g.7396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.532-11T>G MANE Select	ENSP00000225927.1:n.532-11T>G
ENST00000225927.6:c.532-11T>G	ENSP00000225927.1:n.532-11T>G
ENST00000586516.5:c.134-11T>G
ENST00000590358.1:c.220-11T>G	ENSP00000466892.1:n.220-11T>G
ENST00000591587.1:c.127-11T>G	ENSP00000467836.1:n.127-11T>G
NM_000263.3:c.532-11T>G	NP_000254.2:n.532-11T>G
XM_006721920.2:c.-211-11T>G	XP_006721983.1:n.-211-11T>G
XM_011524840.1:c.-211-11T>G	XP_011523142.1:n.-211-11T>G
XM_017024687.1:c.-211-11T>G	XP_016880176.1:n.-211-11T>G
XM_024450771.1:c.589-11T>G	XP_024306539.1:n.589-11T>G
XM_024450772.1:c.-211-11T>G	XP_024306540.1:n.-211-11T>G
NM_000263.4:c.532-11T>G MANE Select	NP_000254.2:n.532-11T>G