Canonical Allele Identifier: CA8595237
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 1117179
ClinVar RCV Id: RCV001445840
dbSNP Id: rs781691544
ExAC: 17:42083542 G / A
gnomAD v2: 17-42083542-G-A
gnomAD v4: 17-44006174-G-A
MyVariant Identifiers: chr17:g.42083542G>A (hg19) chr17:g.44006174G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006174G>A , CM000679.2:g.44006174G>A GRCh38
NC_000017.10:g.42083542G>A , CM000679.1:g.42083542G>A GRCh37
NC_000017.9:g.39439068G>A NCBI36
NG_008106.1:g.6511G>A
NG_023338.1:g.3296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.852G>A (NAGS) MANE Select ENSP00000293404.2:p.Ala284=
ENST00000293404.7:c.852G>A (NAGS) ENSP00000293404.2:p.Ala284=
ENST00000589767.1:c.759G>A (NAGS) ENSP00000465408.1:p.Ala253=
ENST00000592915.1:n.127G>A (NAGS)
NM_153006.2:c.852G>A (NAGS) NP_694551.1:p.Ala284=
XM_011524438.1:c.852G>A (NAGS) XP_011522740.1:p.Ala284=
XM_011524439.1:c.354G>A (NAGS) XP_011522741.1:p.Ala118=
XM_011525035.1:c.-463+17398C>T (PYY) XP_011523337.1:n.-463+17398C>T
XM_011524439.2:c.354G>A (NAGS) XP_011522741.1:p.Ala118=
NM_153006.3:c.852G>A (NAGS) MANE Select NP_694551.1:p.Ala284=
Search 100 bp 5'
Search 100 bp 3'