Canonical Allele Identifier: CA8595213
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 2805969
ClinVar RCV Id: RCV003604092
dbSNP Id: rs755572907
ExAC: 17:42083410 G / T
gnomAD v2: 17-42083410-G-T
gnomAD v4: 17-44006042-G-T
MyVariant Identifiers: chr17:g.42083410G>T (hg19) chr17:g.44006042G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006042G>T , CM000679.2:g.44006042G>T GRCh38
NC_000017.10:g.42083410G>T , CM000679.1:g.42083410G>T GRCh37
NC_000017.9:g.39438936G>T NCBI36
NG_008106.1:g.6379G>T
NG_023338.1:g.3428C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.720G>T (NAGS) MANE Select ENSP00000293404.2:p.Ser240=
ENST00000293404.7:c.720G>T (NAGS) ENSP00000293404.2:p.Ser240=
ENST00000589767.1:c.627G>T (NAGS) ENSP00000465408.1:p.Ser209=
NM_153006.2:c.720G>T (NAGS) NP_694551.1:p.Ser240=
XM_011524438.1:c.720G>T (NAGS) XP_011522740.1:p.Ser240=
XM_011524439.1:c.222G>T (NAGS) XP_011522741.1:p.Ser74=
XM_011525035.1:c.-463+17530C>A (PYY) XP_011523337.1:n.-463+17530C>A
XM_011524439.2:c.222G>T (NAGS) XP_011522741.1:p.Ser74=
NM_153006.3:c.720G>T (NAGS) MANE Select NP_694551.1:p.Ser240=
Search 100 bp 5'
Search 100 bp 3'