Canonical Allele Identifier: CA8595221

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs372452668
• ExAC: 17:42083472 T / A
• gnomAD v2: 17-42083472-T-A
• MyVariant Identifiers: chr17:g.42083472T>A (hg19) ; chr17:g.44006104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006104T>A , CM000679.2:g.44006104T>A	GRCh38
NC_000017.10:g.42083472T>A , CM000679.1:g.42083472T>A	GRCh37
NC_000017.9:g.39438998T>A	NCBI36
NG_008106.1:g.6441T>A
NG_023338.1:g.3366A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.782T>A (NAGS) MANE Select	ENSP00000293404.2:p.Ile261Asn
ENST00000293404.7:c.782T>A (NAGS)	ENSP00000293404.2:p.Ile261Asn
ENST00000589767.1:c.689T>A (NAGS)	ENSP00000465408.1:p.Ile230Asn
ENST00000592915.1:n.57T>A (NAGS)
NM_153006.2:c.782T>A (NAGS)	NP_694551.1:p.Ile261Asn
XM_011524438.1:c.782T>A (NAGS)	XP_011522740.1:p.Ile261Asn
XM_011524439.1:c.284T>A (NAGS)	XP_011522741.1:p.Ile95Asn
XM_011525035.1:c.-463+17468A>T (PYY)	XP_011523337.1:n.-463+17468A>T
XM_011524439.2:c.284T>A (NAGS)	XP_011522741.1:p.Ile95Asn
NM_153006.3:c.782T>A (NAGS) MANE Select	NP_694551.1:p.Ile261Asn