Canonical Allele Identifier: CA399601991

Gene: NAGLU

Linked Data

• dbSNP Id: rs143689867
• gnomAD v2: 17-40695374-G-T
• gnomAD v4: 17-42543356-G-T
• MyVariant Identifiers: chr17:g.40695374G>T (hg19) ; chr17:g.42543356G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543356G>T , CM000679.2:g.42543356G>T	GRCh38
NC_000017.10:g.40695374G>T , CM000679.1:g.40695374G>T	GRCh37
NC_000017.9:g.37948900G>T	NCBI36
NG_011552.1:g.12424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1350G>T MANE Select	ENSP00000225927.1:p.Gln450His
ENST00000225927.6:c.1350G>T	ENSP00000225927.1:p.Gln450His
ENST00000591587.1:c.688G>T	ENSP00000467836.1:n.688G>T
ENST00000592454.1:c.389G>T
NM_000263.3:c.1350G>T	NP_000254.2:p.Gln450His
XM_006721920.2:c.519G>T	XP_006721983.1:p.Gln173His
XM_011524840.1:c.351G>T	XP_011523142.1:p.Gln117His
XM_017024687.1:c.519G>T	XP_016880176.1:p.Gln173His
XM_024450771.1:c.1407G>T	XP_024306539.1:p.Gln469His
XM_024450772.1:c.351G>T	XP_024306540.1:p.Gln117His
NM_000263.4:c.1350G>T MANE Select	NP_000254.2:p.Gln450His