Canonical Allele Identifier: CA399598938

Gene: NAGLU

Linked Data

• dbSNP Id: rs2143088021
• gnomAD v3: 17-42538697-T-G
• gnomAD v4: 17-42538697-T-G
• MyVariant Identifiers: chr17:g.40690715T>G (hg19) ; chr17:g.42538697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538697T>G , CM000679.2:g.42538697T>G	GRCh38
NC_000017.10:g.40690715T>G , CM000679.1:g.40690715T>G	GRCh37
NC_000017.9:g.37944241T>G	NCBI36
NG_011552.1:g.7765T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.706T>G MANE Select	ENSP00000225927.1:p.Phe236Val
ENST00000225927.6:c.706T>G	ENSP00000225927.1:p.Phe236Val
ENST00000586516.5:c.308T>G
ENST00000591587.1:c.301T>G	ENSP00000467836.1:p.Phe101Val
NM_000263.3:c.706T>G	NP_000254.2:p.Phe236Val
XM_006721920.2:c.-37T>G	XP_006721983.1:n.-37T>G
XM_011524840.1:c.-37T>G	XP_011523142.1:n.-37T>G
XM_017024687.1:c.-37T>G	XP_016880176.1:n.-37T>G
XM_024450771.1:c.763T>G	XP_024306539.1:p.Phe255Val
XM_024450772.1:c.-37T>G	XP_024306540.1:n.-37T>G
NM_000263.4:c.706T>G MANE Select	NP_000254.2:p.Phe236Val