Canonical Allele Identifier: CA8577158
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1982536
ClinVar RCV Id: RCV002785498
dbSNP Id: rs776069611
ExAC: 17:40696231 C / T
gnomAD v2: 17-40696231-C-T
gnomAD v3: 17-42544213-C-T
gnomAD v4: 17-42544213-C-T
MyVariant Identifiers: chr17:g.40696231C>T (hg19) chr17:g.42544213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544213C>T , CM000679.2:g.42544213C>T GRCh38
NC_000017.10:g.40696231C>T , CM000679.1:g.40696231C>T GRCh37
NC_000017.9:g.37949757C>T NCBI36
NG_011552.1:g.13281C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2207C>T MANE Select ENSP00000225927.1:p.Pro736Leu
ENST00000225927.6:c.2207C>T ENSP00000225927.1:p.Pro736Leu
NM_000263.3:c.2207C>T NP_000254.2:p.Pro736Leu
XM_006721920.2:c.1376C>T XP_006721983.1:p.Pro459Leu
XM_011524840.1:c.1208C>T XP_011523142.1:p.Pro403Leu
XM_017024687.1:c.1376C>T XP_016880176.1:p.Pro459Leu
XM_024450771.1:c.2264C>T XP_024306539.1:p.Pro755Leu
XM_024450772.1:c.1208C>T XP_024306540.1:p.Pro403Leu
NM_000263.4:c.2207C>T MANE Select NP_000254.2:p.Pro736Leu
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