Canonical Allele Identifier: CA399605130

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 554081
• ClinVar RCV Id: RCV000669643
• dbSNP Id: rs1555622482
• gnomAD v4: 17-42543857-G-T
• MyVariant Identifiers: chr17:g.40695875G>T (hg19) ; chr17:g.42543857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543857G>T , CM000679.2:g.42543857G>T	GRCh38
NC_000017.10:g.40695875G>T , CM000679.1:g.40695875G>T	GRCh37
NC_000017.9:g.37949401G>T	NCBI36
NG_011552.1:g.12925G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1851G>T MANE Select	ENSP00000225927.1:p.Leu617Phe
ENST00000225927.6:c.1851G>T	ENSP00000225927.1:p.Leu617Phe
ENST00000591587.1:c.1189G>T	ENSP00000467836.1:n.1189G>T
NM_000263.3:c.1851G>T	NP_000254.2:p.Leu617Phe
XM_006721920.2:c.1020G>T	XP_006721983.1:p.Leu340Phe
XM_011524840.1:c.852G>T	XP_011523142.1:p.Leu284Phe
XM_017024687.1:c.1020G>T	XP_016880176.1:p.Leu340Phe
XM_024450771.1:c.1908G>T	XP_024306539.1:p.Leu636Phe
XM_024450772.1:c.852G>T	XP_024306540.1:p.Leu284Phe
NM_000263.4:c.1851G>T MANE Select	NP_000254.2:p.Leu617Phe