Canonical Allele Identifier: CA8595373
Gene: NAGS HGNC NCBI
PYY HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44007621G>A
GRCh37 chr17:g.42084989G>A
gnomAD v2:
17:42084989 G / A
gnomAD v4:
chr17-44007621-G-A
Joint Max Group AF 0.00000368 (SAS)
Exomes Max Group AF 0.00000389 (SAS)
ClinVar RCV:
RCV002090410
ClinVar Variation:
1536776
dbSNP:
104894607
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007621G>A , CM000679.2:g.44007621G>A GRCh38
NC_000017.10:g.42084989G>A , CM000679.1:g.42084989G>A GRCh37
NC_000017.9:g.39440515G>A NCBI36
NG_008106.1:g.7958G>A
NG_023338.1:g.1849C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1299G>A (NAGS) MANE Select ENSP00000293404.2:p.Glu433=
ENST00000293404.7:c.1299G>A (NAGS) ENSP00000293404.2:p.Glu433=
ENST00000589767.1:c.1230G>A (NAGS) ENSP00000465408.1:p.Glu410=
ENST00000592915.1:n.1187G>A (NAGS)
NM_153006.2:c.1299G>A (NAGS) NP_694551.1:p.Glu433=
XM_011524438.1:c.1268+127G>A (NAGS) XP_011522740.1:n.1268+127G>A
XM_011524439.1:c.801G>A (NAGS) XP_011522741.1:p.Glu267=
XM_011525035.1:c.-463+15951C>T (PYY) XP_011523337.1:n.-463+15951C>T
XM_011524439.2:c.801G>A (NAGS) XP_011522741.1:p.Glu267=
NM_153006.3:c.1299G>A (NAGS) MANE Select NP_694551.1:p.Glu433=
Search 100 bp 5'
Search 100 bp 3'