Canonical Allele Identifier: CA16620450
Gene: NAGS HGNC NCBI
PYY HGNC NCBI

Linked Data

ClinVar Variation Id: 418369
ClinVar RCV Id: RCV000485712
dbSNP Id: rs1064793209
MyVariant Identifiers: chr17:g.42083894C>G (hg19) chr17:g.44006526C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006526C>G , CM000679.2:g.44006526C>G GRCh38
NC_000017.10:g.42083894C>G , CM000679.1:g.42083894C>G GRCh37
NC_000017.9:g.39439420C>G NCBI36
NG_008106.1:g.6863C>G
NG_023338.1:g.2944G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.916-3C>G (NAGS) MANE Select ENSP00000293404.2:n.916-3C>G
ENST00000293404.7:c.916-3C>G (NAGS) ENSP00000293404.2:n.916-3C>G
ENST00000589767.1:c.823-3C>G (NAGS) ENSP00000465408.1:n.823-3C>G
ENST00000592915.1:n.191-3C>G (NAGS)
NM_153006.2:c.916-3C>G (NAGS) NP_694551.1:n.916-3C>G
XM_011524438.1:c.916-3C>G (NAGS) XP_011522740.1:n.916-3C>G
XM_011524439.1:c.418-3C>G (NAGS) XP_011522741.1:n.418-3C>G
XM_011525035.1:c.-463+17046G>C (PYY) XP_011523337.1:n.-463+17046G>C
XM_011524439.2:c.418-3C>G (NAGS) XP_011522741.1:n.418-3C>G
NM_153006.3:c.916-3C>G (NAGS) MANE Select NP_694551.1:n.916-3C>G
Search 100 bp 5'
Search 100 bp 3'