Canonical Allele Identifier: CA399726162
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42083951T>A (hg19) chr17:g.44006583T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006583T>A , CM000679.2:g.44006583T>A GRCh38
NC_000017.10:g.42083951T>A , CM000679.1:g.42083951T>A GRCh37
NC_000017.9:g.39439477T>A NCBI36
NG_008106.1:g.6920T>A
NG_023338.1:g.2887A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.970T>A (NAGS) MANE Select ENSP00000293404.2:p.Trp324Arg
ENST00000293404.7:c.970T>A (NAGS) ENSP00000293404.2:p.Trp324Arg
ENST00000589767.1:c.877T>A (NAGS) ENSP00000465408.1:p.Trp293Arg
ENST00000592915.1:n.245T>A (NAGS)
NM_153006.2:c.970T>A (NAGS) NP_694551.1:p.Trp324Arg
XM_011524438.1:c.970T>A (NAGS) XP_011522740.1:p.Trp324Arg
XM_011524439.1:c.472T>A (NAGS) XP_011522741.1:p.Trp158Arg
XM_011525035.1:c.-463+16989A>T (PYY) XP_011523337.1:n.-463+16989A>T
XM_011524439.2:c.472T>A (NAGS) XP_011522741.1:p.Trp158Arg
NM_153006.3:c.970T>A (NAGS) MANE Select NP_694551.1:p.Trp324Arg
Search 100 bp 5'
Search 100 bp 3'