Canonical Allele Identifier: CA399604085

Gene: NAGLU

Linked Data

• dbSNP Id: rs1262778017
• gnomAD v2: 17-40695540-G-T
• gnomAD v4: 17-42543522-G-T
• MyVariant Identifiers: chr17:g.40695540G>T (hg19) ; chr17:g.42543522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543522G>T , CM000679.2:g.42543522G>T	GRCh38
NC_000017.10:g.40695540G>T , CM000679.1:g.40695540G>T	GRCh37
NC_000017.9:g.37949066G>T	NCBI36
NG_011552.1:g.12590G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1516G>T MANE Select	ENSP00000225927.1:p.Gly506Trp
ENST00000225927.6:c.1516G>T	ENSP00000225927.1:p.Gly506Trp
ENST00000591587.1:c.854G>T	ENSP00000467836.1:n.854G>T
ENST00000592454.1:c.555G>T
NM_000263.3:c.1516G>T	NP_000254.2:p.Gly506Trp
XM_006721920.2:c.685G>T	XP_006721983.1:p.Gly229Trp
XM_011524840.1:c.517G>T	XP_011523142.1:p.Gly173Trp
XM_017024687.1:c.685G>T	XP_016880176.1:p.Gly229Trp
XM_024450771.1:c.1573G>T	XP_024306539.1:p.Gly525Trp
XM_024450772.1:c.517G>T	XP_024306540.1:p.Gly173Trp
NM_000263.4:c.1516G>T MANE Select	NP_000254.2:p.Gly506Trp