Canonical Allele Identifier: CA399600414

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42541200-A-G
• MyVariant Identifiers: chr17:g.40693218A>G (hg19) ; chr17:g.42541200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541200A>G , CM000679.2:g.42541200A>G	GRCh38
NC_000017.10:g.40693218A>G , CM000679.1:g.40693218A>G	GRCh37
NC_000017.9:g.37946744A>G	NCBI36
NG_011552.1:g.10268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1015A>G MANE Select	ENSP00000225927.1:p.Thr339Ala
ENST00000225927.6:c.1015A>G	ENSP00000225927.1:p.Thr339Ala
ENST00000591587.1:c.360-1828A>G	ENSP00000467836.1:n.360-1828A>G
ENST00000592454.1:c.110A>G
NM_000263.3:c.1015A>G	NP_000254.2:p.Thr339Ala
XM_006721920.2:c.184A>G	XP_006721983.1:p.Thr62Ala
XM_011524840.1:c.23-1828A>G	XP_011523142.1:n.23-1828A>G
XM_017024687.1:c.184A>G	XP_016880176.1:p.Thr62Ala
XM_024450771.1:c.1072A>G	XP_024306539.1:p.Thr358Ala
XM_024450772.1:c.23-1828A>G	XP_024306540.1:n.23-1828A>G
NM_000263.4:c.1015A>G MANE Select	NP_000254.2:p.Thr339Ala