Canonical Allele Identifier: CA250326

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 204585
• ClinVar RCV Id: RCV000186582 ; RCV000423370 ; RCV001852433 ; RCV003479050
• dbSNP Id: rs796052122
• gnomAD v2: 17-40695232-T-C
• gnomAD v3: 17-42543214-T-C
• gnomAD v4: 17-42543214-T-C
• MyVariant Identifiers: chr17:g.40695232T>C (hg19) ; chr17:g.42543214T>C (hg38)
• PubMed: PMID:20301462 ; PMID:25818867

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543214T>C , CM000679.2:g.42543214T>C	GRCh38
NC_000017.10:g.40695232T>C , CM000679.1:g.40695232T>C	GRCh37
NC_000017.9:g.37948758T>C	NCBI36
NG_011552.1:g.12282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1208T>C MANE Select	ENSP00000225927.1:p.Ile403Thr
ENST00000225927.6:c.1208T>C	ENSP00000225927.1:p.Ile403Thr
ENST00000591587.1:c.546T>C	ENSP00000467836.1:n.546T>C
ENST00000592454.1:c.247T>C
NM_000263.3:c.1208T>C	NP_000254.2:p.Ile403Thr
XM_006721920.2:c.377T>C	XP_006721983.1:p.Ile126Thr
XM_011524840.1:c.209T>C	XP_011523142.1:p.Ile70Thr
XM_017024687.1:c.377T>C	XP_016880176.1:p.Ile126Thr
XM_024450771.1:c.1265T>C	XP_024306539.1:p.Ile422Thr
XM_024450772.1:c.209T>C	XP_024306540.1:p.Ile70Thr
NM_000263.4:c.1208T>C MANE Select	NP_000254.2:p.Ile403Thr