Canonical Allele Identifier: CA290780471

Gene: NAGLU

Linked Data

• dbSNP Id: rs866079238
• gnomAD v4: 17-42543421-C-T
• MyVariant Identifiers: chr17:g.40695439C>T (hg19) ; chr17:g.42543421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543421C>T , CM000679.2:g.42543421C>T	GRCh38
NC_000017.10:g.40695439C>T , CM000679.1:g.40695439C>T	GRCh37
NC_000017.9:g.37948965C>T	NCBI36
NG_011552.1:g.12489C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1415C>T MANE Select	ENSP00000225927.1:p.Ala472Val
ENST00000225927.6:c.1415C>T	ENSP00000225927.1:p.Ala472Val
ENST00000591587.1:c.753C>T	ENSP00000467836.1:n.753C>T
ENST00000592454.1:c.454C>T
NM_000263.3:c.1415C>T	NP_000254.2:p.Ala472Val
XM_006721920.2:c.584C>T	XP_006721983.1:p.Ala195Val
XM_011524840.1:c.416C>T	XP_011523142.1:p.Ala139Val
XM_017024687.1:c.584C>T	XP_016880176.1:p.Ala195Val
XM_024450771.1:c.1472C>T	XP_024306539.1:p.Ala491Val
XM_024450772.1:c.416C>T	XP_024306540.1:p.Ala139Val
NM_000263.4:c.1415C>T MANE Select	NP_000254.2:p.Ala472Val