Canonical Allele Identifier: CA399604793

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543769-T-A
• MyVariant Identifiers: chr17:g.40695787T>A (hg19) ; chr17:g.42543769T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543769T>A , CM000679.2:g.42543769T>A	GRCh38
NC_000017.10:g.40695787T>A , CM000679.1:g.40695787T>A	GRCh37
NC_000017.9:g.37949313T>A	NCBI36
NG_011552.1:g.12837T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1763T>A MANE Select	ENSP00000225927.1:p.Leu588Gln
ENST00000225927.6:c.1763T>A	ENSP00000225927.1:p.Leu588Gln
ENST00000591587.1:c.1101T>A	ENSP00000467836.1:n.1101T>A
NM_000263.3:c.1763T>A	NP_000254.2:p.Leu588Gln
XM_006721920.2:c.932T>A	XP_006721983.1:p.Leu311Gln
XM_011524840.1:c.764T>A	XP_011523142.1:p.Leu255Gln
XM_017024687.1:c.932T>A	XP_016880176.1:p.Leu311Gln
XM_024450771.1:c.1820T>A	XP_024306539.1:p.Leu607Gln
XM_024450772.1:c.764T>A	XP_024306540.1:p.Leu255Gln
NM_000263.4:c.1763T>A MANE Select	NP_000254.2:p.Leu588Gln