Canonical Allele Identifier: CA399595922

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2089146
• ClinVar RCV Id: RCV003003082
• gnomAD v4: 17-42536550-T-C
• MyVariant Identifiers: chr17:g.40688568T>C (hg19) ; chr17:g.42536550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536550T>C , CM000679.2:g.42536550T>C	GRCh38
NC_000017.10:g.40688568T>C , CM000679.1:g.40688568T>C	GRCh37
NC_000017.9:g.37942094T>C	NCBI36
NG_011552.1:g.5618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.278T>C MANE Select	ENSP00000225927.1:p.Leu93Pro
ENST00000225927.6:c.278T>C	ENSP00000225927.1:p.Leu93Pro
ENST00000586516.5:c.28T>C
ENST00000591587.1:c.21T>C	ENSP00000467836.1:p.Pro7=
NM_000263.3:c.278T>C	NP_000254.2:p.Leu93Pro
XM_006721920.2:c.-465T>C	XP_006721983.1:n.-465T>C
XM_011524840.1:c.-465T>C	XP_011523142.1:n.-465T>C
XM_024450771.1:c.278T>C	XP_024306539.1:p.Leu93Pro
NM_000263.4:c.278T>C MANE Select	NP_000254.2:p.Leu93Pro