Canonical Allele Identifier: CA399605580

Gene: NAGLU

Linked Data

• dbSNP Id: rs1264446068
• gnomAD v2: 17-40695969-T-C
• gnomAD v3: 17-42543951-T-C
• gnomAD v4: 17-42543951-T-C
• MyVariant Identifiers: chr17:g.40695969T>C (hg19) ; chr17:g.42543951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543951T>C , CM000679.2:g.42543951T>C	GRCh38
NC_000017.10:g.40695969T>C , CM000679.1:g.40695969T>C	GRCh37
NC_000017.9:g.37949495T>C	NCBI36
NG_011552.1:g.13019T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1945T>C MANE Select	ENSP00000225927.1:p.Trp649Arg
ENST00000225927.6:c.1945T>C	ENSP00000225927.1:p.Trp649Arg
ENST00000591587.1:c.1283T>C	ENSP00000467836.1:n.1283T>C
NM_000263.3:c.1945T>C	NP_000254.2:p.Trp649Arg
XM_006721920.2:c.1114T>C	XP_006721983.1:p.Trp372Arg
XM_011524840.1:c.946T>C	XP_011523142.1:p.Trp316Arg
XM_017024687.1:c.1114T>C	XP_016880176.1:p.Trp372Arg
XM_024450771.1:c.2002T>C	XP_024306539.1:p.Trp668Arg
XM_024450772.1:c.946T>C	XP_024306540.1:p.Trp316Arg
NM_000263.4:c.1945T>C MANE Select	NP_000254.2:p.Trp649Arg