Canonical Allele Identifier: CA399604822

Gene: NAGLU

Linked Data

• dbSNP Id: rs1215582852
• gnomAD v4: 17-42543778-T-A
• MyVariant Identifiers: chr17:g.40695796T>A (hg19) ; chr17:g.42543778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543778T>A , CM000679.2:g.42543778T>A	GRCh38
NC_000017.10:g.40695796T>A , CM000679.1:g.40695796T>A	GRCh37
NC_000017.9:g.37949322T>A	NCBI36
NG_011552.1:g.12846T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1772T>A MANE Select	ENSP00000225927.1:p.Leu591Gln
ENST00000225927.6:c.1772T>A	ENSP00000225927.1:p.Leu591Gln
ENST00000591587.1:c.1110T>A	ENSP00000467836.1:n.1110T>A
NM_000263.3:c.1772T>A	NP_000254.2:p.Leu591Gln
XM_006721920.2:c.941T>A	XP_006721983.1:p.Leu314Gln
XM_011524840.1:c.773T>A	XP_011523142.1:p.Leu258Gln
XM_017024687.1:c.941T>A	XP_016880176.1:p.Leu314Gln
XM_024450771.1:c.1829T>A	XP_024306539.1:p.Leu610Gln
XM_024450772.1:c.773T>A	XP_024306540.1:p.Leu258Gln
NM_000263.4:c.1772T>A MANE Select	NP_000254.2:p.Leu591Gln