Canonical Allele Identifier: CA399600101

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40693074A>T (hg19) ; chr17:g.42541056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541056A>T , CM000679.2:g.42541056A>T	GRCh38
NC_000017.10:g.40693074A>T , CM000679.1:g.40693074A>T	GRCh37
NC_000017.9:g.37946600A>T	NCBI36
NG_011552.1:g.10124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.871A>T MANE Select	ENSP00000225927.1:p.Ile291Phe
ENST00000225927.6:c.871A>T	ENSP00000225927.1:p.Ile291Phe
ENST00000586516.5:c.473A>T
ENST00000591587.1:c.360-1972A>T	ENSP00000467836.1:n.360-1972A>T
NM_000263.3:c.871A>T	NP_000254.2:p.Ile291Phe
XM_006721920.2:c.40A>T	XP_006721983.1:p.Ile14Phe
XM_011524840.1:c.23-1972A>T	XP_011523142.1:n.23-1972A>T
XM_017024687.1:c.40A>T	XP_016880176.1:p.Ile14Phe
XM_024450771.1:c.928A>T	XP_024306539.1:p.Ile310Phe
XM_024450772.1:c.23-1972A>T	XP_024306540.1:n.23-1972A>T
NM_000263.4:c.871A>T MANE Select	NP_000254.2:p.Ile291Phe