Canonical Allele Identifier: CA399605447

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1913786
• ClinVar RCV Id: RCV002589954
• MyVariant Identifiers: chr17:g.40695935C>G (hg19) ; chr17:g.42543917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543917C>G , CM000679.2:g.42543917C>G	GRCh38
NC_000017.10:g.40695935C>G , CM000679.1:g.40695935C>G	GRCh37
NC_000017.9:g.37949461C>G	NCBI36
NG_011552.1:g.12985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1911C>G MANE Select	ENSP00000225927.1:p.Phe637Leu
ENST00000225927.6:c.1911C>G	ENSP00000225927.1:p.Phe637Leu
ENST00000591587.1:c.1249C>G	ENSP00000467836.1:n.1249C>G
NM_000263.3:c.1911C>G	NP_000254.2:p.Phe637Leu
XM_006721920.2:c.1080C>G	XP_006721983.1:p.Phe360Leu
XM_011524840.1:c.912C>G	XP_011523142.1:p.Phe304Leu
XM_017024687.1:c.1080C>G	XP_016880176.1:p.Phe360Leu
XM_024450771.1:c.1968C>G	XP_024306539.1:p.Phe656Leu
XM_024450772.1:c.912C>G	XP_024306540.1:p.Phe304Leu
NM_000263.4:c.1911C>G MANE Select	NP_000254.2:p.Phe637Leu