Canonical Allele Identifier: CA500216527

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690768C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538750C>G , CM000679.2:g.42538750C>G	GRCh38
NC_000017.10:g.40690768C>G , CM000679.1:g.40690768C>G	GRCh37
NC_000017.9:g.37944294C>G	NCBI36
NG_011552.1:g.7818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.759C>G MANE Select	ENSP00000225927.1:p.Val253=
ENST00000225927.6:c.759C>G	ENSP00000225927.1:p.Val253=
ENST00000586516.5:c.361C>G
ENST00000591587.1:c.354C>G	ENSP00000467836.1:p.Val118=
NM_000263.3:c.759C>G	NP_000254.2:p.Val253=
XM_006721920.2:c.17C>G	XP_006721983.1:p.Ser6Ter
XM_011524840.1:c.17C>G	XP_011523142.1:p.Ser6Ter
XM_017024687.1:c.17C>G	XP_016880176.1:p.Ser6Ter
XM_024450771.1:c.816C>G	XP_024306539.1:p.Val272=
XM_024450772.1:c.17C>G	XP_024306540.1:p.Ser6Ter
NM_000263.4:c.759C>G MANE Select	NP_000254.2:p.Val253=