Canonical Allele Identifier: CA8595235
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 2031068
ClinVar RCV Id: RCV002872173
dbSNP Id: rs202173320
ExAC: 17:42083530 G / A
gnomAD v3: 17-44006162-G-A
gnomAD v4: 17-44006162-G-A
MyVariant Identifiers: chr17:g.42083530G>A (hg19) chr17:g.44006162G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006162G>A , CM000679.2:g.44006162G>A GRCh38
NC_000017.10:g.42083530G>A , CM000679.1:g.42083530G>A GRCh37
NC_000017.9:g.39439056G>A NCBI36
NG_008106.1:g.6499G>A
NG_023338.1:g.3308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.840G>A (NAGS) MANE Select ENSP00000293404.2:p.Ser280=
ENST00000293404.7:c.840G>A (NAGS) ENSP00000293404.2:p.Ser280=
ENST00000589767.1:c.747G>A (NAGS) ENSP00000465408.1:p.Ser249=
ENST00000592915.1:n.115G>A (NAGS)
NM_153006.2:c.840G>A (NAGS) NP_694551.1:p.Ser280=
XM_011524438.1:c.840G>A (NAGS) XP_011522740.1:p.Ser280=
XM_011524439.1:c.342G>A (NAGS) XP_011522741.1:p.Ser114=
XM_011525035.1:c.-463+17410C>T (PYY) XP_011523337.1:n.-463+17410C>T
XM_011524439.2:c.342G>A (NAGS) XP_011522741.1:p.Ser114=
NM_153006.3:c.840G>A (NAGS) MANE Select NP_694551.1:p.Ser280=
Search 100 bp 5'
Search 100 bp 3'