Canonical Allele Identifier: CA500216354

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42538392-T-G
• MyVariant Identifiers: chr17:g.40690410T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538392T>G , CM000679.2:g.42538392T>G	GRCh38
NC_000017.10:g.40690410T>G , CM000679.1:g.40690410T>G	GRCh37
NC_000017.9:g.37943936T>G	NCBI36
NG_011552.1:g.7460T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.585T>G MANE Select	ENSP00000225927.1:p.Gly195=
ENST00000225927.6:c.585T>G	ENSP00000225927.1:p.Gly195=
ENST00000586516.5:c.187T>G
ENST00000591587.1:c.180T>G	ENSP00000467836.1:p.Gly60=
NM_000263.3:c.585T>G	NP_000254.2:p.Gly195=
XM_006721920.2:c.-158T>G	XP_006721983.1:n.-158T>G
XM_011524840.1:c.-158T>G	XP_011523142.1:n.-158T>G
XM_017024687.1:c.-158T>G	XP_016880176.1:n.-158T>G
XM_024450771.1:c.642T>G	XP_024306539.1:p.Gly214=
XM_024450772.1:c.-158T>G	XP_024306540.1:n.-158T>G
NM_000263.4:c.585T>G MANE Select	NP_000254.2:p.Gly195=