Canonical Allele Identifier: CA8595212
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 2676919
ClinVar RCV Id: RCV003463086
dbSNP Id: rs781031762
ExAC: 17:42083409 C / A
gnomAD v2: 17-42083409-C-A
gnomAD v3: 17-44006041-C-A
gnomAD v4: 17-44006041-C-A
MyVariant Identifiers: chr17:g.42083409C>A (hg19) chr17:g.44006041C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006041C>A , CM000679.2:g.44006041C>A GRCh38
NC_000017.10:g.42083409C>A , CM000679.1:g.42083409C>A GRCh37
NC_000017.9:g.39438935C>A NCBI36
NG_008106.1:g.6378C>A
NG_023338.1:g.3429G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.719C>A (NAGS) MANE Select ENSP00000293404.2:p.Ser240Ter
ENST00000293404.7:c.719C>A (NAGS) ENSP00000293404.2:p.Ser240Ter
ENST00000589767.1:c.626C>A (NAGS) ENSP00000465408.1:p.Ser209Ter
NM_153006.2:c.719C>A (NAGS) NP_694551.1:p.Ser240Ter
XM_011524438.1:c.719C>A (NAGS) XP_011522740.1:p.Ser240Ter
XM_011524439.1:c.221C>A (NAGS) XP_011522741.1:p.Ser74Ter
XM_011525035.1:c.-463+17531G>T (PYY) XP_011523337.1:n.-463+17531G>T
XM_011524439.2:c.221C>A (NAGS) XP_011522741.1:p.Ser74Ter
NM_153006.3:c.719C>A (NAGS) MANE Select NP_694551.1:p.Ser240Ter
Search 100 bp 5'
Search 100 bp 3'