Canonical Allele Identifier: CA399598367

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690376T>G (hg19) ; chr17:g.42538358T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538358T>G , CM000679.2:g.42538358T>G	GRCh38
NC_000017.10:g.40690376T>G , CM000679.1:g.40690376T>G	GRCh37
NC_000017.9:g.37943902T>G	NCBI36
NG_011552.1:g.7426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.551T>G MANE Select	ENSP00000225927.1:p.Leu184Arg
ENST00000225927.6:c.551T>G	ENSP00000225927.1:p.Leu184Arg
ENST00000586516.5:c.153T>G
ENST00000590358.1:c.239T>G	ENSP00000466892.1:p.Leu80Arg
ENST00000591587.1:c.146T>G	ENSP00000467836.1:p.Leu49Arg
NM_000263.3:c.551T>G	NP_000254.2:p.Leu184Arg
XM_006721920.2:c.-192T>G	XP_006721983.1:n.-192T>G
XM_011524840.1:c.-192T>G	XP_011523142.1:n.-192T>G
XM_017024687.1:c.-192T>G	XP_016880176.1:n.-192T>G
XM_024450771.1:c.608T>G	XP_024306539.1:p.Leu203Arg
XM_024450772.1:c.-192T>G	XP_024306540.1:n.-192T>G
NM_000263.4:c.551T>G MANE Select	NP_000254.2:p.Leu184Arg