Canonical Allele Identifier: CA500216929

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543410-G-T
• MyVariant Identifiers: chr17:g.40695428G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543410G>T , CM000679.2:g.42543410G>T	GRCh38
NC_000017.10:g.40695428G>T , CM000679.1:g.40695428G>T	GRCh37
NC_000017.9:g.37948954G>T	NCBI36
NG_011552.1:g.12478G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1404G>T MANE Select	ENSP00000225927.1:p.Val468=
ENST00000225927.6:c.1404G>T	ENSP00000225927.1:p.Val468=
ENST00000591587.1:c.742G>T	ENSP00000467836.1:n.742G>T
ENST00000592454.1:c.443G>T
NM_000263.3:c.1404G>T	NP_000254.2:p.Val468=
XM_006721920.2:c.573G>T	XP_006721983.1:p.Val191=
XM_011524840.1:c.405G>T	XP_011523142.1:p.Val135=
XM_017024687.1:c.573G>T	XP_016880176.1:p.Val191=
XM_024450771.1:c.1461G>T	XP_024306539.1:p.Val487=
XM_024450772.1:c.405G>T	XP_024306540.1:p.Val135=
NM_000263.4:c.1404G>T MANE Select	NP_000254.2:p.Val468=