Canonical Allele Identifier: CA290781288

Gene: NAGLU

Linked Data

• dbSNP Id: rs922368939
• gnomAD v2: 17-40696240-T-C
• gnomAD v4: 17-42544222-T-C
• MyVariant Identifiers: chr17:g.40696240T>C (hg19) ; chr17:g.42544222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544222T>C , CM000679.2:g.42544222T>C	GRCh38
NC_000017.10:g.40696240T>C , CM000679.1:g.40696240T>C	GRCh37
NC_000017.9:g.37949766T>C	NCBI36
NG_011552.1:g.13290T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2216T>C MANE Select	ENSP00000225927.1:p.Val739Ala
ENST00000225927.6:c.2216T>C	ENSP00000225927.1:p.Val739Ala
NM_000263.3:c.2216T>C	NP_000254.2:p.Val739Ala
XM_006721920.2:c.1385T>C	XP_006721983.1:p.Val462Ala
XM_011524840.1:c.1217T>C	XP_011523142.1:p.Val406Ala
XM_017024687.1:c.1385T>C	XP_016880176.1:p.Val462Ala
XM_024450771.1:c.2273T>C	XP_024306539.1:p.Val758Ala
XM_024450772.1:c.1217T>C	XP_024306540.1:p.Val406Ala
NM_000263.4:c.2216T>C MANE Select	NP_000254.2:p.Val739Ala