Canonical Allele Identifier: CA399726282
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42083984C>A (hg19) chr17:g.44006616C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006616C>A , CM000679.2:g.44006616C>A GRCh38
NC_000017.10:g.42083984C>A , CM000679.1:g.42083984C>A GRCh37
NC_000017.9:g.39439510C>A NCBI36
NG_008106.1:g.6953C>A
NG_023338.1:g.2854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1003C>A (NAGS) MANE Select ENSP00000293404.2:p.Leu335Ile
ENST00000293404.7:c.1003C>A (NAGS) ENSP00000293404.2:p.Leu335Ile
ENST00000589767.1:c.910C>A (NAGS) ENSP00000465408.1:p.Leu304Ile
ENST00000592915.1:n.278C>A (NAGS)
NM_153006.2:c.1003C>A (NAGS) NP_694551.1:p.Leu335Ile
XM_011524438.1:c.1003C>A (NAGS) XP_011522740.1:p.Leu335Ile
XM_011524439.1:c.505C>A (NAGS) XP_011522741.1:p.Leu169Ile
XM_011525035.1:c.-463+16956G>T (PYY) XP_011523337.1:n.-463+16956G>T
XM_011524439.2:c.505C>A (NAGS) XP_011522741.1:p.Leu169Ile
NM_153006.3:c.1003C>A (NAGS) MANE Select NP_694551.1:p.Leu335Ile
Search 100 bp 5'
Search 100 bp 3'