Canonical Allele Identifier: CA8595244
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 2144661
ClinVar RCV Id: RCV003071045
dbSNP Id: rs370138738
ExAC: 17:42083571 A / G
gnomAD v2: 17-42083571-A-G
gnomAD v3: 17-44006203-A-G
gnomAD v4: 17-44006203-A-G
MyVariant Identifiers: chr17:g.42083571A>G (hg19) chr17:g.44006203A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006203A>G , CM000679.2:g.44006203A>G GRCh38
NC_000017.10:g.42083571A>G , CM000679.1:g.42083571A>G GRCh37
NC_000017.9:g.39439097A>G NCBI36
NG_008106.1:g.6540A>G
NG_023338.1:g.3267T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.881A>G (NAGS) MANE Select ENSP00000293404.2:p.Asn294Ser
ENST00000293404.7:c.881A>G (NAGS) ENSP00000293404.2:p.Asn294Ser
ENST00000589767.1:c.788A>G (NAGS) ENSP00000465408.1:p.Asn263Ser
ENST00000592915.1:n.156A>G (NAGS)
NM_153006.2:c.881A>G (NAGS) NP_694551.1:p.Asn294Ser
XM_011524438.1:c.881A>G (NAGS) XP_011522740.1:p.Asn294Ser
XM_011524439.1:c.383A>G (NAGS) XP_011522741.1:p.Asn128Ser
XM_011525035.1:c.-463+17369T>C (PYY) XP_011523337.1:n.-463+17369T>C
XM_011524439.2:c.383A>G (NAGS) XP_011522741.1:p.Asn128Ser
NM_153006.3:c.881A>G (NAGS) MANE Select NP_694551.1:p.Asn294Ser
Search 100 bp 5'
Search 100 bp 3'