Canonical Allele Identifier: CA399598957

Gene: NAGLU

Linked Data

• dbSNP Id: rs1320973052
• gnomAD v2: 17-40690721-A-G
• gnomAD v3: 17-42538703-A-G
• gnomAD v4: 17-42538703-A-G
• MyVariant Identifiers: chr17:g.40690721A>G (hg19) ; chr17:g.42538703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538703A>G , CM000679.2:g.42538703A>G	GRCh38
NC_000017.10:g.40690721A>G , CM000679.1:g.40690721A>G	GRCh37
NC_000017.9:g.37944247A>G	NCBI36
NG_011552.1:g.7771A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.712A>G MANE Select	ENSP00000225927.1:p.Met238Val
ENST00000225927.6:c.712A>G	ENSP00000225927.1:p.Met238Val
ENST00000586516.5:c.314A>G
ENST00000591587.1:c.307A>G	ENSP00000467836.1:p.Met103Val
NM_000263.3:c.712A>G	NP_000254.2:p.Met238Val
XM_006721920.2:c.-31A>G	XP_006721983.1:n.-31A>G
XM_011524840.1:c.-31A>G	XP_011523142.1:n.-31A>G
XM_017024687.1:c.-31A>G	XP_016880176.1:n.-31A>G
XM_024450771.1:c.769A>G	XP_024306539.1:p.Met257Val
XM_024450772.1:c.-31A>G	XP_024306540.1:n.-31A>G
NM_000263.4:c.712A>G MANE Select	NP_000254.2:p.Met238Val