Canonical Allele Identifier: CA500215687

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40688338C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536320C>G , CM000679.2:g.42536320C>G	GRCh38
NC_000017.10:g.40688338C>G , CM000679.1:g.40688338C>G	GRCh37
NC_000017.9:g.37941864C>G	NCBI36
NG_011552.1:g.5388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.48C>G MANE Select	ENSP00000225927.1:p.Ala16=
ENST00000225927.6:c.48C>G	ENSP00000225927.1:p.Ala16=
NM_000263.3:c.48C>G	NP_000254.2:p.Ala16=
XM_024450771.1:c.48C>G	XP_024306539.1:p.Ala16=
NM_000263.4:c.48C>G MANE Select	NP_000254.2:p.Ala16=