Canonical Allele Identifier: CA8595279
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 708226
ClinVar RCV Id: RCV000879447
dbSNP Id: rs186127828
ExAC: 17:42083921 G / A
gnomAD v2: 17-42083921-G-A
gnomAD v3: 17-44006553-G-A
gnomAD v4: 17-44006553-G-A
MyVariant Identifiers: chr17:g.42083921G>A (hg19) chr17:g.44006553G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006553G>A , CM000679.2:g.44006553G>A GRCh38
NC_000017.10:g.42083921G>A , CM000679.1:g.42083921G>A GRCh37
NC_000017.9:g.39439447G>A NCBI36
NG_008106.1:g.6890G>A
NG_023338.1:g.2917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.940G>A (NAGS) MANE Select ENSP00000293404.2:p.Ala314Thr
ENST00000293404.7:c.940G>A (NAGS) ENSP00000293404.2:p.Ala314Thr
ENST00000589767.1:c.847G>A (NAGS) ENSP00000465408.1:p.Ala283Thr
ENST00000592915.1:n.215G>A (NAGS)
NM_153006.2:c.940G>A (NAGS) NP_694551.1:p.Ala314Thr
XM_011524438.1:c.940G>A (NAGS) XP_011522740.1:p.Ala314Thr
XM_011524439.1:c.442G>A (NAGS) XP_011522741.1:p.Ala148Thr
XM_011525035.1:c.-463+17019C>T (PYY) XP_011523337.1:n.-463+17019C>T
XM_011524439.2:c.442G>A (NAGS) XP_011522741.1:p.Ala148Thr
NM_153006.3:c.940G>A (NAGS) MANE Select NP_694551.1:p.Ala314Thr
Search 100 bp 5'
Search 100 bp 3'