Canonical Allele Identifier: CA8595303
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 2691519
ClinVar RCV Id: RCV003489756
dbSNP Id: rs375193099
ExAC: 17:42084083 G / A
gnomAD v2: 17-42084083-G-A
gnomAD v3: 17-44006715-G-A
gnomAD v4: 17-44006715-G-A
MyVariant Identifiers: chr17:g.42084083G>A (hg19) chr17:g.44006715G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006715G>A , CM000679.2:g.44006715G>A GRCh38
NC_000017.10:g.42084083G>A , CM000679.1:g.42084083G>A GRCh37
NC_000017.9:g.39439609G>A NCBI36
NG_008106.1:g.7052G>A
NG_023338.1:g.2755C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+6G>A (NAGS) MANE Select ENSP00000293404.2:n.1096+6G>A
ENST00000293404.7:c.1096+6G>A (NAGS) ENSP00000293404.2:n.1096+6G>A
ENST00000589767.1:c.1003+6G>A (NAGS) ENSP00000465408.1:n.1003+6G>A
ENST00000592915.1:n.377G>A (NAGS)
NM_153006.2:c.1096+6G>A (NAGS) NP_694551.1:n.1096+6G>A
XM_011524438.1:c.1096+6G>A (NAGS) XP_011522740.1:n.1096+6G>A
XM_011524439.1:c.598+6G>A (NAGS) XP_011522741.1:n.598+6G>A
XM_011525035.1:c.-463+16857C>T (PYY) XP_011523337.1:n.-463+16857C>T
XM_011524439.2:c.598+6G>A (NAGS) XP_011522741.1:n.598+6G>A
NM_153006.3:c.1096+6G>A (NAGS) MANE Select NP_694551.1:n.1096+6G>A
Search 100 bp 5'
Search 100 bp 3'