Canonical Allele Identifier: CA399596459

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42536652-A-T
• MyVariant Identifiers: chr17:g.40688670A>T (hg19) ; chr17:g.42536652A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536652A>T , CM000679.2:g.42536652A>T	GRCh38
NC_000017.10:g.40688670A>T , CM000679.1:g.40688670A>T	GRCh37
NC_000017.9:g.37942196A>T	NCBI36
NG_011552.1:g.5720A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.380A>T MANE Select	ENSP00000225927.1:p.Asn127Ile
ENST00000225927.6:c.380A>T	ENSP00000225927.1:p.Asn127Ile
ENST00000586516.5:c.130A>T
ENST00000591587.1:c.123A>T	ENSP00000467836.1:p.Gln41His
NM_000263.3:c.380A>T	NP_000254.2:p.Asn127Ile
XM_006721920.2:c.-363A>T	XP_006721983.1:n.-363A>T
XM_011524840.1:c.-363A>T	XP_011523142.1:n.-363A>T
XM_024450771.1:c.380A>T	XP_024306539.1:p.Asn127Ile
NM_000263.4:c.380A>T MANE Select	NP_000254.2:p.Asn127Ile