Canonical Allele Identifier: CA399606128

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696112G>T (hg19) ; chr17:g.42544094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544094G>T , CM000679.2:g.42544094G>T	GRCh38
NC_000017.10:g.40696112G>T , CM000679.1:g.40696112G>T	GRCh37
NC_000017.9:g.37949638G>T	NCBI36
NG_011552.1:g.13162G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2088G>T MANE Select	ENSP00000225927.1:p.Gln696His
ENST00000225927.6:c.2088G>T	ENSP00000225927.1:p.Gln696His
ENST00000591587.1:c.1426G>T	ENSP00000467836.1:n.1426G>T
NM_000263.3:c.2088G>T	NP_000254.2:p.Gln696His
XM_006721920.2:c.1257G>T	XP_006721983.1:p.Gln419His
XM_011524840.1:c.1089G>T	XP_011523142.1:p.Gln363His
XM_017024687.1:c.1257G>T	XP_016880176.1:p.Gln419His
XM_024450771.1:c.2145G>T	XP_024306539.1:p.Gln715His
XM_024450772.1:c.1089G>T	XP_024306540.1:p.Gln363His
NM_000263.4:c.2088G>T MANE Select	NP_000254.2:p.Gln696His