Canonical Allele Identifier: CA290778701

Gene: NAGLU

Linked Data

• dbSNP Id: rs104894600
• MyVariant Identifiers: chr17:g.40693143T>C (hg19) ; chr17:g.42541125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541125T>C , CM000679.2:g.42541125T>C	GRCh38
NC_000017.10:g.40693143T>C , CM000679.1:g.40693143T>C	GRCh37
NC_000017.9:g.37946669T>C	NCBI36
NG_011552.1:g.10193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.940T>C MANE Select	ENSP00000225927.1:p.Phe314Leu
ENST00000225927.6:c.940T>C	ENSP00000225927.1:p.Phe314Leu
ENST00000591587.1:c.360-1903T>C	ENSP00000467836.1:n.360-1903T>C
ENST00000592454.1:c.35T>C
NM_000263.3:c.940T>C	NP_000254.2:p.Phe314Leu
XM_006721920.2:c.109T>C	XP_006721983.1:p.Phe37Leu
XM_011524840.1:c.23-1903T>C	XP_011523142.1:n.23-1903T>C
XM_017024687.1:c.109T>C	XP_016880176.1:p.Phe37Leu
XM_024450771.1:c.997T>C	XP_024306539.1:p.Phe333Leu
XM_024450772.1:c.23-1903T>C	XP_024306540.1:n.23-1903T>C
NM_000263.4:c.940T>C MANE Select	NP_000254.2:p.Phe314Leu