Canonical Allele Identifier: CA399605226

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543870-C-A
• MyVariant Identifiers: chr17:g.40695888C>A (hg19) ; chr17:g.42543870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543870C>A , CM000679.2:g.42543870C>A	GRCh38
NC_000017.10:g.40695888C>A , CM000679.1:g.40695888C>A	GRCh37
NC_000017.9:g.37949414C>A	NCBI36
NG_011552.1:g.12938C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1864C>A MANE Select	ENSP00000225927.1:p.Leu622Ile
ENST00000225927.6:c.1864C>A	ENSP00000225927.1:p.Leu622Ile
ENST00000591587.1:c.1202C>A	ENSP00000467836.1:n.1202C>A
NM_000263.3:c.1864C>A	NP_000254.2:p.Leu622Ile
XM_006721920.2:c.1033C>A	XP_006721983.1:p.Leu345Ile
XM_011524840.1:c.865C>A	XP_011523142.1:p.Leu289Ile
XM_017024687.1:c.1033C>A	XP_016880176.1:p.Leu345Ile
XM_024450771.1:c.1921C>A	XP_024306539.1:p.Leu641Ile
XM_024450772.1:c.865C>A	XP_024306540.1:p.Leu289Ile
NM_000263.4:c.1864C>A MANE Select	NP_000254.2:p.Leu622Ile