Canonical Allele Identifier: CA399605427

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2107902
• ClinVar RCV Id: RCV003033877
• dbSNP Id: rs1449616485
• gnomAD v2: 17-40695927-G-A
• MyVariant Identifiers: chr17:g.40695927G>A (hg19) ; chr17:g.42543909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543909G>A , CM000679.2:g.42543909G>A	GRCh38
NC_000017.10:g.40695927G>A , CM000679.1:g.40695927G>A	GRCh37
NC_000017.9:g.37949453G>A	NCBI36
NG_011552.1:g.12977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1903G>A MANE Select	ENSP00000225927.1:p.Ala635Thr
ENST00000225927.6:c.1903G>A	ENSP00000225927.1:p.Ala635Thr
ENST00000591587.1:c.1241G>A	ENSP00000467836.1:n.1241G>A
NM_000263.3:c.1903G>A	NP_000254.2:p.Ala635Thr
XM_006721920.2:c.1072G>A	XP_006721983.1:p.Ala358Thr
XM_011524840.1:c.904G>A	XP_011523142.1:p.Ala302Thr
XM_017024687.1:c.1072G>A	XP_016880176.1:p.Ala358Thr
XM_024450771.1:c.1960G>A	XP_024306539.1:p.Ala654Thr
XM_024450772.1:c.904G>A	XP_024306540.1:p.Ala302Thr
NM_000263.4:c.1903G>A MANE Select	NP_000254.2:p.Ala635Thr