Canonical Allele Identifier: CA8595417

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2738970
• ClinVar RCV Id: RCV003497439
• dbSNP Id: rs776850288
• ExAC: 17:42085154 A / G
• gnomAD v2: 17-42085154-A-G
• gnomAD v4: 17-44007786-A-G
• MyVariant Identifiers: chr17:g.42085154A>G (hg19) ; chr17:g.44007786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007786A>G , CM000679.2:g.44007786A>G	GRCh38
NC_000017.10:g.42085154A>G , CM000679.1:g.42085154A>G	GRCh37
NC_000017.9:g.39440680A>G	NCBI36
NG_008106.1:g.8123A>G
NG_023338.1:g.1684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1451+13A>G (NAGS) MANE Select	ENSP00000293404.2:n.1451+13A>G
ENST00000293404.7:c.1451+13A>G (NAGS)	ENSP00000293404.2:n.1451+13A>G
ENST00000589767.1:c.1382+13A>G (NAGS)	ENSP00000465408.1:n.1382+13A>G
ENST00000592915.1:n.1339+13A>G (NAGS)
NM_153006.2:c.1451+13A>G (NAGS)	NP_694551.1:n.1451+13A>G
XM_011524438.1:c.1268+292A>G (NAGS)	XP_011522740.1:n.1268+292A>G
XM_011524439.1:c.953+13A>G (NAGS)	XP_011522741.1:n.953+13A>G
XM_011525035.1:c.-463+15786T>C (PYY)	XP_011523337.1:n.-463+15786T>C
XM_011524439.2:c.953+13A>G (NAGS)	XP_011522741.1:n.953+13A>G
NM_153006.3:c.1451+13A>G (NAGS) MANE Select	NP_694551.1:n.1451+13A>G