Canonical Allele Identifier: CA399604030

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695526T>G (hg19) ; chr17:g.42543508T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543508T>G , CM000679.2:g.42543508T>G	GRCh38
NC_000017.10:g.40695526T>G , CM000679.1:g.40695526T>G	GRCh37
NC_000017.9:g.37949052T>G	NCBI36
NG_011552.1:g.12576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1502T>G MANE Select	ENSP00000225927.1:p.Val501Gly
ENST00000225927.6:c.1502T>G	ENSP00000225927.1:p.Val501Gly
ENST00000591587.1:c.840T>G	ENSP00000467836.1:n.840T>G
ENST00000592454.1:c.541T>G
NM_000263.3:c.1502T>G	NP_000254.2:p.Val501Gly
XM_006721920.2:c.671T>G	XP_006721983.1:p.Val224Gly
XM_011524840.1:c.503T>G	XP_011523142.1:p.Val168Gly
XM_017024687.1:c.671T>G	XP_016880176.1:p.Val224Gly
XM_024450771.1:c.1559T>G	XP_024306539.1:p.Val520Gly
XM_024450772.1:c.503T>G	XP_024306540.1:p.Val168Gly
NM_000263.4:c.1502T>G MANE Select	NP_000254.2:p.Val501Gly