Canonical Allele Identifier: CA115549
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 2432
ClinVar RCV Id: RCV000002534
dbSNP Id: rs104894605
MyVariant Identifiers: chr17:g.42084979T>C (hg19) chr17:g.44007611T>C (hg38)
PubMed: PMID:12754705 PMID:17421020
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007611T>C , CM000679.2:g.44007611T>C GRCh38
NC_000017.10:g.42084979T>C , CM000679.1:g.42084979T>C GRCh37
NC_000017.9:g.39440505T>C NCBI36
NG_008106.1:g.7948T>C
NG_023338.1:g.1859A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1289T>C (NAGS) MANE Select ENSP00000293404.2:p.Leu430Pro
ENST00000293404.7:c.1289T>C (NAGS) ENSP00000293404.2:p.Leu430Pro
ENST00000589767.1:c.1220T>C (NAGS) ENSP00000465408.1:p.Leu407Pro
ENST00000592915.1:n.1177T>C (NAGS)
NM_153006.2:c.1289T>C (NAGS) NP_694551.1:p.Leu430Pro
XM_011524438.1:c.1268+117T>C (NAGS) XP_011522740.1:n.1268+117T>C
XM_011524439.1:c.791T>C (NAGS) XP_011522741.1:p.Leu264Pro
XM_011525035.1:c.-463+15961A>G (PYY) XP_011523337.1:n.-463+15961A>G
XM_011524439.2:c.791T>C (NAGS) XP_011522741.1:p.Leu264Pro
NM_153006.3:c.1289T>C (NAGS) MANE Select NP_694551.1:p.Leu430Pro
Search 100 bp 5'
Search 100 bp 3'