Canonical Allele Identifier: CA8595306
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 262687
ClinVar RCV Id: RCV000245542 RCV000610391 RCV001640580
dbSNP Id: rs228771
ExAC: 17:42084097 C / G
gnomAD v2: 17-42084097-C-G
gnomAD v3: 17-44006729-C-G
gnomAD v4: 17-44006729-C-G
MyVariant Identifiers: chr17:g.42084097C>G (hg19) chr17:g.44006729C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006729C>G , CM000679.2:g.44006729C>G GRCh38
NC_000017.10:g.42084097C>G , CM000679.1:g.42084097C>G GRCh37
NC_000017.9:g.39439623C>G NCBI36
NG_008106.1:g.7066C>G
NG_023338.1:g.2741G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+20C>G (NAGS) MANE Select ENSP00000293404.2:n.1096+20C>G
ENST00000293404.7:c.1096+20C>G (NAGS) ENSP00000293404.2:n.1096+20C>G
ENST00000589767.1:c.1003+20C>G (NAGS) ENSP00000465408.1:n.1003+20C>G
ENST00000592915.1:n.391C>G (NAGS)
NM_153006.2:c.1096+20C>G (NAGS) NP_694551.1:n.1096+20C>G
XM_011524438.1:c.1096+20C>G (NAGS) XP_011522740.1:n.1096+20C>G
XM_011524439.1:c.598+20C>G (NAGS) XP_011522741.1:n.598+20C>G
XM_011525035.1:c.-463+16843G>C (PYY) XP_011523337.1:n.-463+16843G>C
XM_011524439.2:c.598+20C>G (NAGS) XP_011522741.1:n.598+20C>G
NM_153006.3:c.1096+20C>G (NAGS) MANE Select NP_694551.1:n.1096+20C>G
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