Canonical Allele Identifier: CA399604308

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543626-G-T
• MyVariant Identifiers: chr17:g.40695644G>T (hg19) ; chr17:g.42543626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543626G>T , CM000679.2:g.42543626G>T	GRCh38
NC_000017.10:g.40695644G>T , CM000679.1:g.40695644G>T	GRCh37
NC_000017.9:g.37949170G>T	NCBI36
NG_011552.1:g.12694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1620G>T MANE Select	ENSP00000225927.1:p.Trp540Cys
ENST00000225927.6:c.1620G>T	ENSP00000225927.1:p.Trp540Cys
ENST00000591587.1:c.958G>T	ENSP00000467836.1:n.958G>T
NM_000263.3:c.1620G>T	NP_000254.2:p.Trp540Cys
XM_006721920.2:c.789G>T	XP_006721983.1:p.Trp263Cys
XM_011524840.1:c.621G>T	XP_011523142.1:p.Trp207Cys
XM_017024687.1:c.789G>T	XP_016880176.1:p.Trp263Cys
XM_024450771.1:c.1677G>T	XP_024306539.1:p.Trp559Cys
XM_024450772.1:c.621G>T	XP_024306540.1:p.Trp207Cys
NM_000263.4:c.1620G>T MANE Select	NP_000254.2:p.Trp540Cys