Canonical Allele Identifier: CA10649351
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 323443
ClinVar RCV Id: RCV000306308 RCV002522976
dbSNP Id: rs754480096
gnomAD v2: 17-42082147-C-T
gnomAD v3: 17-44004779-C-T
gnomAD v4: 17-44004779-C-T
MyVariant Identifiers: chr17:g.42082147C>T (hg19) chr17:g.44004779C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44004779C>T , CM000679.2:g.44004779C>T GRCh38
NC_000017.10:g.42082147C>T , CM000679.1:g.42082147C>T GRCh37
NC_000017.9:g.39437673C>T NCBI36
NG_008106.1:g.5116C>T
NG_023338.1:g.4691G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.116C>T (NAGS) MANE Select ENSP00000293404.2:p.Ala39Val
ENST00000293404.7:c.116C>T (NAGS) ENSP00000293404.2:p.Ala39Val
ENST00000589767.1:c.23C>T (NAGS) ENSP00000465408.1:p.Ala8Val
NM_153006.2:c.116C>T (NAGS) NP_694551.1:p.Ala39Val
XM_011524438.1:c.116C>T (NAGS) XP_011522740.1:p.Ala39Val
XM_011525035.1:c.-463+18793G>A (PYY) XP_011523337.1:n.-463+18793G>A
NM_153006.3:c.116C>T (NAGS) MANE Select NP_694551.1:p.Ala39Val
Search 100 bp 5'
Search 100 bp 3'