Canonical Allele Identifier: CA399726211
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

dbSNP Id: rs1490098104
gnomAD v4: 17-44006595-A-G
MyVariant Identifiers: chr17:g.42083963A>G (hg19) chr17:g.44006595A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006595A>G , CM000679.2:g.44006595A>G GRCh38
NC_000017.10:g.42083963A>G , CM000679.1:g.42083963A>G GRCh37
NC_000017.9:g.39439489A>G NCBI36
NG_008106.1:g.6932A>G
NG_023338.1:g.2875T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.982A>G (NAGS) MANE Select ENSP00000293404.2:p.Lys328Glu
ENST00000293404.7:c.982A>G (NAGS) ENSP00000293404.2:p.Lys328Glu
ENST00000589767.1:c.889A>G (NAGS) ENSP00000465408.1:p.Lys297Glu
ENST00000592915.1:n.257A>G (NAGS)
NM_153006.2:c.982A>G (NAGS) NP_694551.1:p.Lys328Glu
XM_011524438.1:c.982A>G (NAGS) XP_011522740.1:p.Lys328Glu
XM_011524439.1:c.484A>G (NAGS) XP_011522741.1:p.Lys162Glu
XM_011525035.1:c.-463+16977T>C (PYY) XP_011523337.1:n.-463+16977T>C
XM_011524439.2:c.484A>G (NAGS) XP_011522741.1:p.Lys162Glu
NM_153006.3:c.982A>G (NAGS) MANE Select NP_694551.1:p.Lys328Glu
Search 100 bp 5'
Search 100 bp 3'