Canonical Allele Identifier: CA8576836
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 744227
ClinVar RCV Id: RCV000920662 RCV001274189 RCV001726371
dbSNP Id: rs140945842
ExAC: 17:40690732 G / A
gnomAD v2: 17-40690732-G-A
gnomAD v3: 17-42538714-G-A
gnomAD v4: 17-42538714-G-A
MyVariant Identifiers: chr17:g.40690732G>A (hg19) chr17:g.42538714G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538714G>A , CM000679.2:g.42538714G>A GRCh38
NC_000017.10:g.40690732G>A , CM000679.1:g.40690732G>A GRCh37
NC_000017.9:g.37944258G>A NCBI36
NG_011552.1:g.7782G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.723G>A MANE Select ENSP00000225927.1:p.Val241=
ENST00000225927.6:c.723G>A ENSP00000225927.1:p.Val241=
ENST00000586516.5:c.325G>A
ENST00000591587.1:c.318G>A ENSP00000467836.1:p.Val106=
NM_000263.3:c.723G>A NP_000254.2:p.Val241=
XM_006721920.2:c.-20G>A XP_006721983.1:n.-20G>A
XM_011524840.1:c.-20G>A XP_011523142.1:n.-20G>A
XM_017024687.1:c.-20G>A XP_016880176.1:n.-20G>A
XM_024450771.1:c.780G>A XP_024306539.1:p.Val260=
XM_024450772.1:c.-20G>A XP_024306540.1:n.-20G>A
NM_000263.4:c.723G>A MANE Select NP_000254.2:p.Val241=
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