Canonical Allele Identifier: CA500614949
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 514926
ClinVar RCV Id: RCV000608337 RCV003603067
dbSNP Id: rs1555620394
gnomAD v4: 17-44004852-C-T
MyVariant Identifiers: chr17:g.42082220C>T (hg19) chr17:g.44004852C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44004852C>T , CM000679.2:g.44004852C>T GRCh38
NC_000017.10:g.42082220C>T , CM000679.1:g.42082220C>T GRCh37
NC_000017.9:g.39437746C>T NCBI36
NG_008106.1:g.5189C>T
NG_023338.1:g.4618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.189C>T (NAGS) MANE Select ENSP00000293404.2:p.Tyr63=
ENST00000293404.7:c.189C>T (NAGS) ENSP00000293404.2:p.Tyr63=
ENST00000589767.1:c.96C>T (NAGS) ENSP00000465408.1:p.Tyr32=
NM_153006.2:c.189C>T (NAGS) NP_694551.1:p.Tyr63=
XM_011524438.1:c.189C>T (NAGS) XP_011522740.1:p.Tyr63=
XM_011525035.1:c.-463+18720G>A (PYY) XP_011523337.1:n.-463+18720G>A
NM_153006.3:c.189C>T (NAGS) MANE Select NP_694551.1:p.Tyr63=
Search 100 bp 5'
Search 100 bp 3'