Canonical Allele Identifier: CA500216542

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 752679
• ClinVar RCV Id: RCV000929839
• dbSNP Id: rs1411789843
• MyVariant Identifiers: chr17:g.40692983C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42540965C>T , CM000679.2:g.42540965C>T	GRCh38
NC_000017.10:g.40692983C>T , CM000679.1:g.40692983C>T	GRCh37
NC_000017.9:g.37946509C>T	NCBI36
NG_011552.1:g.10033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.780C>T MANE Select	ENSP00000225927.1:p.Val260=
ENST00000225927.6:c.780C>T	ENSP00000225927.1:p.Val260=
ENST00000586516.5:c.382C>T
ENST00000591587.1:c.360-2063C>T	ENSP00000467836.1:n.360-2063C>T
NM_000263.3:c.780C>T	NP_000254.2:p.Val260=
XM_006721920.2:c.23-74C>T	XP_006721983.1:n.23-74C>T
XM_011524840.1:c.23-2063C>T	XP_011523142.1:n.23-2063C>T
XM_017024687.1:c.23-74C>T	XP_016880176.1:n.23-74C>T
XM_024450771.1:c.837C>T	XP_024306539.1:p.Val279=
XM_024450772.1:c.23-2063C>T	XP_024306540.1:n.23-2063C>T
NM_000263.4:c.780C>T MANE Select	NP_000254.2:p.Val260=