Canonical Allele Identifier: CA399596092

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40688612C>G (hg19) ; chr17:g.42536594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536594C>G , CM000679.2:g.42536594C>G	GRCh38
NC_000017.10:g.40688612C>G , CM000679.1:g.40688612C>G	GRCh37
NC_000017.9:g.37942138C>G	NCBI36
NG_011552.1:g.5662C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.322C>G MANE Select	ENSP00000225927.1:p.Leu108Val
ENST00000225927.6:c.322C>G	ENSP00000225927.1:p.Leu108Val
ENST00000586516.5:c.72C>G
ENST00000591587.1:c.65C>G	ENSP00000467836.1:p.Ala22Gly
NM_000263.3:c.322C>G	NP_000254.2:p.Leu108Val
XM_006721920.2:c.-421C>G	XP_006721983.1:n.-421C>G
XM_011524840.1:c.-421C>G	XP_011523142.1:n.-421C>G
XM_024450771.1:c.322C>G	XP_024306539.1:p.Leu108Val
NM_000263.4:c.322C>G MANE Select	NP_000254.2:p.Leu108Val