Canonical Allele Identifier: CA500216338

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2064913
• ClinVar RCV Id: RCV002953786
• gnomAD v4: 17-42538383-C-T
• COSMIC: COSM6289125
• MyVariant Identifiers: chr17:g.40690401C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538383C>T , CM000679.2:g.42538383C>T	GRCh38
NC_000017.10:g.40690401C>T , CM000679.1:g.40690401C>T	GRCh37
NC_000017.9:g.37943927C>T	NCBI36
NG_011552.1:g.7451C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.576C>T MANE Select	ENSP00000225927.1:p.Phe192=
ENST00000225927.6:c.576C>T	ENSP00000225927.1:p.Phe192=
ENST00000586516.5:c.178C>T
ENST00000591587.1:c.171C>T	ENSP00000467836.1:p.Phe57=
NM_000263.3:c.576C>T	NP_000254.2:p.Phe192=
XM_006721920.2:c.-167C>T	XP_006721983.1:n.-167C>T
XM_011524840.1:c.-167C>T	XP_011523142.1:n.-167C>T
XM_017024687.1:c.-167C>T	XP_016880176.1:n.-167C>T
XM_024450771.1:c.633C>T	XP_024306539.1:p.Phe211=
XM_024450772.1:c.-167C>T	XP_024306540.1:n.-167C>T
NM_000263.4:c.576C>T MANE Select	NP_000254.2:p.Phe192=