Canonical Allele Identifier: CA399726435
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

gnomAD v4: 17-44006661-G-A
COSMIC: COSM6388506
MyVariant Identifiers: chr17:g.42084029G>A (hg19) chr17:g.44006661G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006661G>A , CM000679.2:g.44006661G>A GRCh38
NC_000017.10:g.42084029G>A , CM000679.1:g.42084029G>A GRCh37
NC_000017.9:g.39439555G>A NCBI36
NG_008106.1:g.6998G>A
NG_023338.1:g.2809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1048G>A (NAGS) MANE Select ENSP00000293404.2:p.Val350Ile
ENST00000293404.7:c.1048G>A (NAGS) ENSP00000293404.2:p.Val350Ile
ENST00000589767.1:c.955G>A (NAGS) ENSP00000465408.1:p.Val319Ile
ENST00000592915.1:n.323G>A (NAGS)
NM_153006.2:c.1048G>A (NAGS) NP_694551.1:p.Val350Ile
XM_011524438.1:c.1048G>A (NAGS) XP_011522740.1:p.Val350Ile
XM_011524439.1:c.550G>A (NAGS) XP_011522741.1:p.Val184Ile
XM_011525035.1:c.-463+16911C>T (PYY) XP_011523337.1:n.-463+16911C>T
XM_011524439.2:c.550G>A (NAGS) XP_011522741.1:p.Val184Ile
NM_153006.3:c.1048G>A (NAGS) MANE Select NP_694551.1:p.Val350Ile
Search 100 bp 5'
Search 100 bp 3'