Canonical Allele Identifier: CA290773359

Gene: NAGLU

Linked Data

• dbSNP Id: rs965486171
• gnomAD v2: 17-40690614-G-A
• gnomAD v3: 17-42538596-G-A
• gnomAD v4: 17-42538596-G-A
• MyVariant Identifiers: chr17:g.40690614G>A (hg19) ; chr17:g.42538596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538596G>A , CM000679.2:g.42538596G>A	GRCh38
NC_000017.10:g.40690614G>A , CM000679.1:g.40690614G>A	GRCh37
NC_000017.9:g.37944140G>A	NCBI36
NG_011552.1:g.7664G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.679-74G>A MANE Select	ENSP00000225927.1:n.679-74G>A
ENST00000225927.6:c.679-74G>A	ENSP00000225927.1:n.679-74G>A
ENST00000586516.5:c.281-74G>A
ENST00000591587.1:c.274-74G>A	ENSP00000467836.1:n.274-74G>A
NM_000263.3:c.679-74G>A	NP_000254.2:n.679-74G>A
XM_006721920.2:c.-64-74G>A	XP_006721983.1:n.-64-74G>A
XM_011524840.1:c.-64-74G>A	XP_011523142.1:n.-64-74G>A
XM_017024687.1:c.-64-74G>A	XP_016880176.1:n.-64-74G>A
XM_024450771.1:c.736-74G>A	XP_024306539.1:n.736-74G>A
XM_024450772.1:c.-64-74G>A	XP_024306540.1:n.-64-74G>A
NM_000263.4:c.679-74G>A MANE Select	NP_000254.2:n.679-74G>A