Canonical Allele Identifier: CA290781124
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 632282
ClinVar RCV Id: RCV000779220 RCV000806351 RCV001030810 RCV003396352
dbSNP Id: rs147036053
gnomAD v2: 17-40695924-G-A
gnomAD v3: 17-42543906-G-A
gnomAD v4: 17-42543906-G-A
MyVariant Identifiers: chr17:g.40695924G>A (hg19) chr17:g.42543906G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543906G>A , CM000679.2:g.42543906G>A GRCh38
NC_000017.10:g.40695924G>A , CM000679.1:g.40695924G>A GRCh37
NC_000017.9:g.37949450G>A NCBI36
NG_011552.1:g.12974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1900G>A MANE Select ENSP00000225927.1:p.Glu634Lys
ENST00000225927.6:c.1900G>A ENSP00000225927.1:p.Glu634Lys
ENST00000591587.1:c.1238G>A ENSP00000467836.1:n.1238G>A
NM_000263.3:c.1900G>A NP_000254.2:p.Glu634Lys
XM_006721920.2:c.1069G>A XP_006721983.1:p.Glu357Lys
XM_011524840.1:c.901G>A XP_011523142.1:p.Glu301Lys
XM_017024687.1:c.1069G>A XP_016880176.1:p.Glu357Lys
XM_024450771.1:c.1957G>A XP_024306539.1:p.Glu653Lys
XM_024450772.1:c.901G>A XP_024306540.1:p.Glu301Lys
NM_000263.4:c.1900G>A MANE Select NP_000254.2:p.Glu634Lys
Search 100 bp 5'
Search 100 bp 3'