Canonical Allele Identifier: CA500216496

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42538702-C-A
• MyVariant Identifiers: chr17:g.40690720C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538702C>A , CM000679.2:g.42538702C>A	GRCh38
NC_000017.10:g.40690720C>A , CM000679.1:g.40690720C>A	GRCh37
NC_000017.9:g.37944246C>A	NCBI36
NG_011552.1:g.7770C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.711C>A MANE Select	ENSP00000225927.1:p.Gly237=
ENST00000225927.6:c.711C>A	ENSP00000225927.1:p.Gly237=
ENST00000586516.5:c.313C>A
ENST00000591587.1:c.306C>A	ENSP00000467836.1:p.Gly102=
NM_000263.3:c.711C>A	NP_000254.2:p.Gly237=
XM_006721920.2:c.-32C>A	XP_006721983.1:n.-32C>A
XM_011524840.1:c.-32C>A	XP_011523142.1:n.-32C>A
XM_017024687.1:c.-32C>A	XP_016880176.1:n.-32C>A
XM_024450771.1:c.768C>A	XP_024306539.1:p.Gly256=
XM_024450772.1:c.-32C>A	XP_024306540.1:n.-32C>A
NM_000263.4:c.711C>A MANE Select	NP_000254.2:p.Gly237=