Canonical Allele Identifier: CA399605575

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695968G>C (hg19) ; chr17:g.42543950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543950G>C , CM000679.2:g.42543950G>C	GRCh38
NC_000017.10:g.40695968G>C , CM000679.1:g.40695968G>C	GRCh37
NC_000017.9:g.37949494G>C	NCBI36
NG_011552.1:g.13018G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1944G>C MANE Select	ENSP00000225927.1:p.Leu648Phe
ENST00000225927.6:c.1944G>C	ENSP00000225927.1:p.Leu648Phe
ENST00000591587.1:c.1282G>C	ENSP00000467836.1:n.1282G>C
NM_000263.3:c.1944G>C	NP_000254.2:p.Leu648Phe
XM_006721920.2:c.1113G>C	XP_006721983.1:p.Leu371Phe
XM_011524840.1:c.945G>C	XP_011523142.1:p.Leu315Phe
XM_017024687.1:c.1113G>C	XP_016880176.1:p.Leu371Phe
XM_024450771.1:c.2001G>C	XP_024306539.1:p.Leu667Phe
XM_024450772.1:c.945G>C	XP_024306540.1:p.Leu315Phe
NM_000263.4:c.1944G>C MANE Select	NP_000254.2:p.Leu648Phe