Canonical Allele Identifier: CA399596053

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1714975
• ClinVar RCV Id: RCV002299294
• MyVariant Identifiers: chr17:g.40688604G>C (hg19) ; chr17:g.42536586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536586G>C , CM000679.2:g.42536586G>C	GRCh38
NC_000017.10:g.40688604G>C , CM000679.1:g.40688604G>C	GRCh37
NC_000017.9:g.37942130G>C	NCBI36
NG_011552.1:g.5654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.314G>C MANE Select	ENSP00000225927.1:p.Gly105Ala
ENST00000225927.6:c.314G>C	ENSP00000225927.1:p.Gly105Ala
ENST00000586516.5:c.64G>C
ENST00000591587.1:c.57G>C	ENSP00000467836.1:p.Arg19=
NM_000263.3:c.314G>C	NP_000254.2:p.Gly105Ala
XM_006721920.2:c.-429G>C	XP_006721983.1:n.-429G>C
XM_011524840.1:c.-429G>C	XP_011523142.1:n.-429G>C
XM_024450771.1:c.314G>C	XP_024306539.1:p.Gly105Ala
NM_000263.4:c.314G>C MANE Select	NP_000254.2:p.Gly105Ala