Canonical Allele Identifier: CA399601746

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2070609
• ClinVar RCV Id: RCV002971280
• MyVariant Identifiers: chr17:g.40695312G>T (hg19) ; chr17:g.42543294G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543294G>T , CM000679.2:g.42543294G>T	GRCh38
NC_000017.10:g.40695312G>T , CM000679.1:g.40695312G>T	GRCh37
NC_000017.9:g.37948838G>T	NCBI36
NG_011552.1:g.12362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1288G>T MANE Select	ENSP00000225927.1:p.Ala430Ser
ENST00000225927.6:c.1288G>T	ENSP00000225927.1:p.Ala430Ser
ENST00000591587.1:c.626G>T	ENSP00000467836.1:n.626G>T
ENST00000592454.1:c.327G>T
NM_000263.3:c.1288G>T	NP_000254.2:p.Ala430Ser
XM_006721920.2:c.457G>T	XP_006721983.1:p.Ala153Ser
XM_011524840.1:c.289G>T	XP_011523142.1:p.Ala97Ser
XM_017024687.1:c.457G>T	XP_016880176.1:p.Ala153Ser
XM_024450771.1:c.1345G>T	XP_024306539.1:p.Ala449Ser
XM_024450772.1:c.289G>T	XP_024306540.1:p.Ala97Ser
NM_000263.4:c.1288G>T MANE Select	NP_000254.2:p.Ala430Ser