Canonical Allele Identifier: CA8576825

Gene: NAGLU

Linked Data

• dbSNP Id: rs750296268
• ExAC: 17:40690649 C / G
• gnomAD v2: 17-40690649-C-G
• MyVariant Identifiers: chr17:g.40690649C>G (hg19) ; chr17:g.42538631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538631C>G , CM000679.2:g.42538631C>G	GRCh38
NC_000017.10:g.40690649C>G , CM000679.1:g.40690649C>G	GRCh37
NC_000017.9:g.37944175C>G	NCBI36
NG_011552.1:g.7699C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.679-39C>G MANE Select	ENSP00000225927.1:n.679-39C>G
ENST00000225927.6:c.679-39C>G	ENSP00000225927.1:n.679-39C>G
ENST00000586516.5:c.281-39C>G
ENST00000591587.1:c.274-39C>G	ENSP00000467836.1:n.274-39C>G
NM_000263.3:c.679-39C>G	NP_000254.2:n.679-39C>G
XM_006721920.2:c.-64-39C>G	XP_006721983.1:n.-64-39C>G
XM_011524840.1:c.-64-39C>G	XP_011523142.1:n.-64-39C>G
XM_017024687.1:c.-64-39C>G	XP_016880176.1:n.-64-39C>G
XM_024450771.1:c.736-39C>G	XP_024306539.1:n.736-39C>G
XM_024450772.1:c.-64-39C>G	XP_024306540.1:n.-64-39C>G
NM_000263.4:c.679-39C>G MANE Select	NP_000254.2:n.679-39C>G