Canonical Allele Identifier: CA399726324
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

dbSNP Id: rs763711792
gnomAD v4: 17-44006628-G-A
MyVariant Identifiers: chr17:g.42083996G>A (hg19) chr17:g.44006628G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006628G>A , CM000679.2:g.44006628G>A GRCh38
NC_000017.10:g.42083996G>A , CM000679.1:g.42083996G>A GRCh37
NC_000017.9:g.39439522G>A NCBI36
NG_008106.1:g.6965G>A
NG_023338.1:g.2842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1015G>A (NAGS) MANE Select ENSP00000293404.2:p.Val339Met
ENST00000293404.7:c.1015G>A (NAGS) ENSP00000293404.2:p.Val339Met
ENST00000589767.1:c.922G>A (NAGS) ENSP00000465408.1:p.Val308Met
ENST00000592915.1:n.290G>A (NAGS)
NM_153006.2:c.1015G>A (NAGS) NP_694551.1:p.Val339Met
XM_011524438.1:c.1015G>A (NAGS) XP_011522740.1:p.Val339Met
XM_011524439.1:c.517G>A (NAGS) XP_011522741.1:p.Val173Met
XM_011525035.1:c.-463+16944C>T (PYY) XP_011523337.1:n.-463+16944C>T
XM_011524439.2:c.517G>A (NAGS) XP_011522741.1:p.Val173Met
NM_153006.3:c.1015G>A (NAGS) MANE Select NP_694551.1:p.Val339Met
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