Canonical Allele Identifier: CA399606385

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1385338
• ClinVar RCV Id: RCV001888772
• dbSNP Id: rs760180817
• MyVariant Identifiers: chr17:g.40696215T>C (hg19) ; chr17:g.42544197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544197T>C , CM000679.2:g.42544197T>C	GRCh38
NC_000017.10:g.40696215T>C , CM000679.1:g.40696215T>C	GRCh37
NC_000017.9:g.37949741T>C	NCBI36
NG_011552.1:g.13265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2191T>C MANE Select	ENSP00000225927.1:p.Phe731Leu
ENST00000225927.6:c.2191T>C	ENSP00000225927.1:p.Phe731Leu
NM_000263.3:c.2191T>C	NP_000254.2:p.Phe731Leu
XM_006721920.2:c.1360T>C	XP_006721983.1:p.Phe454Leu
XM_011524840.1:c.1192T>C	XP_011523142.1:p.Phe398Leu
XM_017024687.1:c.1360T>C	XP_016880176.1:p.Phe454Leu
XM_024450771.1:c.2248T>C	XP_024306539.1:p.Phe750Leu
XM_024450772.1:c.1192T>C	XP_024306540.1:p.Phe398Leu
NM_000263.4:c.2191T>C MANE Select	NP_000254.2:p.Phe731Leu