Canonical Allele Identifier: CA399604498

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695715C>G (hg19) ; chr17:g.42543697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543697C>G , CM000679.2:g.42543697C>G	GRCh38
NC_000017.10:g.40695715C>G , CM000679.1:g.40695715C>G	GRCh37
NC_000017.9:g.37949241C>G	NCBI36
NG_011552.1:g.12765C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1691C>G MANE Select	ENSP00000225927.1:p.Thr564Ser
ENST00000225927.6:c.1691C>G	ENSP00000225927.1:p.Thr564Ser
ENST00000591587.1:c.1029C>G	ENSP00000467836.1:n.1029C>G
NM_000263.3:c.1691C>G	NP_000254.2:p.Thr564Ser
XM_006721920.2:c.860C>G	XP_006721983.1:p.Thr287Ser
XM_011524840.1:c.692C>G	XP_011523142.1:p.Thr231Ser
XM_017024687.1:c.860C>G	XP_016880176.1:p.Thr287Ser
XM_024450771.1:c.1748C>G	XP_024306539.1:p.Thr583Ser
XM_024450772.1:c.692C>G	XP_024306540.1:p.Thr231Ser
NM_000263.4:c.1691C>G MANE Select	NP_000254.2:p.Thr564Ser