Canonical Allele Identifier: CA8577066

Gene: NAGLU

Linked Data

• dbSNP Id: rs777277903
• ExAC: 17:40695659 A / C
• gnomAD v2: 17-40695659-A-C
• gnomAD v3: 17-42543641-A-C
• gnomAD v4: 17-42543641-A-C
• MyVariant Identifiers: chr17:g.40695659A>C (hg19) ; chr17:g.42543641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543641A>C , CM000679.2:g.42543641A>C	GRCh38
NC_000017.10:g.40695659A>C , CM000679.1:g.40695659A>C	GRCh37
NC_000017.9:g.37949185A>C	NCBI36
NG_011552.1:g.12709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1635A>C MANE Select	ENSP00000225927.1:p.Thr545=
ENST00000225927.6:c.1635A>C	ENSP00000225927.1:p.Thr545=
ENST00000591587.1:c.973A>C	ENSP00000467836.1:n.973A>C
NM_000263.3:c.1635A>C	NP_000254.2:p.Thr545=
XM_006721920.2:c.804A>C	XP_006721983.1:p.Thr268=
XM_011524840.1:c.636A>C	XP_011523142.1:p.Thr212=
XM_017024687.1:c.804A>C	XP_016880176.1:p.Thr268=
XM_024450771.1:c.1692A>C	XP_024306539.1:p.Thr564=
XM_024450772.1:c.636A>C	XP_024306540.1:p.Thr212=
NM_000263.4:c.1635A>C MANE Select	NP_000254.2:p.Thr545=