Canonical Allele Identifier: CA500216290

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2948030
• ClinVar RCV Id: RCV003806852
• MyVariant Identifiers: chr17:g.40690368C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538350C>G , CM000679.2:g.42538350C>G	GRCh38
NC_000017.10:g.40690368C>G , CM000679.1:g.40690368C>G	GRCh37
NC_000017.9:g.37943894C>G	NCBI36
NG_011552.1:g.7418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.543C>G MANE Select	ENSP00000225927.1:p.Ala181=
ENST00000225927.6:c.543C>G	ENSP00000225927.1:p.Ala181=
ENST00000586516.5:c.145C>G
ENST00000590358.1:c.231C>G	ENSP00000466892.1:p.Ala77=
ENST00000591587.1:c.138C>G	ENSP00000467836.1:p.Ala46=
NM_000263.3:c.543C>G	NP_000254.2:p.Ala181=
XM_006721920.2:c.-200C>G	XP_006721983.1:n.-200C>G
XM_011524840.1:c.-200C>G	XP_011523142.1:n.-200C>G
XM_017024687.1:c.-200C>G	XP_016880176.1:n.-200C>G
XM_024450771.1:c.600C>G	XP_024306539.1:p.Ala200=
XM_024450772.1:c.-200C>G	XP_024306540.1:n.-200C>G
NM_000263.4:c.543C>G MANE Select	NP_000254.2:p.Ala181=