Canonical Allele Identifier: CA500241228
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 1123058
ClinVar RCV Id: RCV001453960 RCV003456497
dbSNP Id: rs1401837626
gnomAD v2: 17-42084028-C-T
gnomAD v4: 17-44006660-C-T
COSMIC: COSM5639668
MyVariant Identifiers: chr17:g.42084028C>T (hg19) chr17:g.44006660C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006660C>T , CM000679.2:g.44006660C>T GRCh38
NC_000017.10:g.42084028C>T , CM000679.1:g.42084028C>T GRCh37
NC_000017.9:g.39439554C>T NCBI36
NG_008106.1:g.6997C>T
NG_023338.1:g.2810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1047C>T (NAGS) MANE Select ENSP00000293404.2:p.Ala349=
ENST00000293404.7:c.1047C>T (NAGS) ENSP00000293404.2:p.Ala349=
ENST00000589767.1:c.954C>T (NAGS) ENSP00000465408.1:p.Ala318=
ENST00000592915.1:n.322C>T (NAGS)
NM_153006.2:c.1047C>T (NAGS) NP_694551.1:p.Ala349=
XM_011524438.1:c.1047C>T (NAGS) XP_011522740.1:p.Ala349=
XM_011524439.1:c.549C>T (NAGS) XP_011522741.1:p.Ala183=
XM_011525035.1:c.-463+16912G>A (PYY) XP_011523337.1:n.-463+16912G>A
XM_011524439.2:c.549C>T (NAGS) XP_011522741.1:p.Ala183=
NM_153006.3:c.1047C>T (NAGS) MANE Select NP_694551.1:p.Ala349=
Search 100 bp 5'
Search 100 bp 3'