Canonical Allele Identifier: CA399605145

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1444811
• ClinVar RCV Id: RCV001955994
• dbSNP Id: rs2143114107
• gnomAD v4: 17-42543859-T-C
• MyVariant Identifiers: chr17:g.40695877T>C (hg19) ; chr17:g.42543859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543859T>C , CM000679.2:g.42543859T>C	GRCh38
NC_000017.10:g.40695877T>C , CM000679.1:g.40695877T>C	GRCh37
NC_000017.9:g.37949403T>C	NCBI36
NG_011552.1:g.12927T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1853T>C MANE Select	ENSP00000225927.1:p.Leu618Pro
ENST00000225927.6:c.1853T>C	ENSP00000225927.1:p.Leu618Pro
ENST00000591587.1:c.1191T>C	ENSP00000467836.1:n.1191T>C
NM_000263.3:c.1853T>C	NP_000254.2:p.Leu618Pro
XM_006721920.2:c.1022T>C	XP_006721983.1:p.Leu341Pro
XM_011524840.1:c.854T>C	XP_011523142.1:p.Leu285Pro
XM_017024687.1:c.1022T>C	XP_016880176.1:p.Leu341Pro
XM_024450771.1:c.1910T>C	XP_024306539.1:p.Leu637Pro
XM_024450772.1:c.854T>C	XP_024306540.1:p.Leu285Pro
NM_000263.4:c.1853T>C MANE Select	NP_000254.2:p.Leu618Pro