Canonical Allele Identifier: CA399598364

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40690375C>G (hg19) ; chr17:g.42538357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538357C>G , CM000679.2:g.42538357C>G	GRCh38
NC_000017.10:g.40690375C>G , CM000679.1:g.40690375C>G	GRCh37
NC_000017.9:g.37943901C>G	NCBI36
NG_011552.1:g.7425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.550C>G MANE Select	ENSP00000225927.1:p.Leu184Val
ENST00000225927.6:c.550C>G	ENSP00000225927.1:p.Leu184Val
ENST00000586516.5:c.152C>G
ENST00000590358.1:c.238C>G	ENSP00000466892.1:p.Leu80Val
ENST00000591587.1:c.145C>G	ENSP00000467836.1:p.Leu49Val
NM_000263.3:c.550C>G	NP_000254.2:p.Leu184Val
XM_006721920.2:c.-193C>G	XP_006721983.1:n.-193C>G
XM_011524840.1:c.-193C>G	XP_011523142.1:n.-193C>G
XM_017024687.1:c.-193C>G	XP_016880176.1:n.-193C>G
XM_024450771.1:c.607C>G	XP_024306539.1:p.Leu203Val
XM_024450772.1:c.-193C>G	XP_024306540.1:n.-193C>G
NM_000263.4:c.550C>G MANE Select	NP_000254.2:p.Leu184Val