Canonical Allele Identifier: CA500217796

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2036754
• ClinVar RCV Id: RCV002899381
• MyVariant Identifiers: chr17:g.40695857T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543839T>G , CM000679.2:g.42543839T>G	GRCh38
NC_000017.10:g.40695857T>G , CM000679.1:g.40695857T>G	GRCh37
NC_000017.9:g.37949383T>G	NCBI36
NG_011552.1:g.12907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1833T>G MANE Select	ENSP00000225927.1:p.Ala611=
ENST00000225927.6:c.1833T>G	ENSP00000225927.1:p.Ala611=
ENST00000591587.1:c.1171T>G	ENSP00000467836.1:n.1171T>G
NM_000263.3:c.1833T>G	NP_000254.2:p.Ala611=
XM_006721920.2:c.1002T>G	XP_006721983.1:p.Ala334=
XM_011524840.1:c.834T>G	XP_011523142.1:p.Ala278=
XM_017024687.1:c.1002T>G	XP_016880176.1:p.Ala334=
XM_024450771.1:c.1890T>G	XP_024306539.1:p.Ala630=
XM_024450772.1:c.834T>G	XP_024306540.1:p.Ala278=
NM_000263.4:c.1833T>G MANE Select	NP_000254.2:p.Ala611=