Canonical Allele Identifier: CA399605325

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2110071
• ClinVar RCV Id: RCV003020151
• MyVariant Identifiers: chr17:g.40695903G>A (hg19) ; chr17:g.42543885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543885G>A , CM000679.2:g.42543885G>A	GRCh38
NC_000017.10:g.40695903G>A , CM000679.1:g.40695903G>A	GRCh37
NC_000017.9:g.37949429G>A	NCBI36
NG_011552.1:g.12953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1879G>A MANE Select	ENSP00000225927.1:p.Ala627Thr
ENST00000225927.6:c.1879G>A	ENSP00000225927.1:p.Ala627Thr
ENST00000591587.1:c.1217G>A	ENSP00000467836.1:n.1217G>A
NM_000263.3:c.1879G>A	NP_000254.2:p.Ala627Thr
XM_006721920.2:c.1048G>A	XP_006721983.1:p.Ala350Thr
XM_011524840.1:c.880G>A	XP_011523142.1:p.Ala294Thr
XM_017024687.1:c.1048G>A	XP_016880176.1:p.Ala350Thr
XM_024450771.1:c.1936G>A	XP_024306539.1:p.Ala646Thr
XM_024450772.1:c.880G>A	XP_024306540.1:p.Ala294Thr
NM_000263.4:c.1879G>A MANE Select	NP_000254.2:p.Ala627Thr