Canonical Allele Identifier: CA399603844

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1361597
• ClinVar RCV Id: RCV001899750
• dbSNP Id: rs1332288767
• MyVariant Identifiers: chr17:g.40695477G>C (hg19) ; chr17:g.42543459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543459G>C , CM000679.2:g.42543459G>C	GRCh38
NC_000017.10:g.40695477G>C , CM000679.1:g.40695477G>C	GRCh37
NC_000017.9:g.37949003G>C	NCBI36
NG_011552.1:g.12527G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1453G>C MANE Select	ENSP00000225927.1:p.Val485Leu
ENST00000225927.6:c.1453G>C	ENSP00000225927.1:p.Val485Leu
ENST00000591587.1:c.791G>C	ENSP00000467836.1:n.791G>C
ENST00000592454.1:c.492G>C
NM_000263.3:c.1453G>C	NP_000254.2:p.Val485Leu
XM_006721920.2:c.622G>C	XP_006721983.1:p.Val208Leu
XM_011524840.1:c.454G>C	XP_011523142.1:p.Val152Leu
XM_017024687.1:c.622G>C	XP_016880176.1:p.Val208Leu
XM_024450771.1:c.1510G>C	XP_024306539.1:p.Val504Leu
XM_024450772.1:c.454G>C	XP_024306540.1:p.Val152Leu
NM_000263.4:c.1453G>C MANE Select	NP_000254.2:p.Val485Leu