Canonical Allele Identifier: CA8595375

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs768969364
• ExAC: 17:42084993 G / A
• gnomAD v2: 17-42084993-G-A
• gnomAD v4: 17-44007625-G-A
• MyVariant Identifiers: chr17:g.42084993G>A (hg19) ; chr17:g.44007625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007625G>A , CM000679.2:g.44007625G>A	GRCh38
NC_000017.10:g.42084993G>A , CM000679.1:g.42084993G>A	GRCh37
NC_000017.9:g.39440519G>A	NCBI36
NG_008106.1:g.7962G>A
NG_023338.1:g.1845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1303G>A (NAGS) MANE Select	ENSP00000293404.2:p.Val435Ile
ENST00000293404.7:c.1303G>A (NAGS)	ENSP00000293404.2:p.Val435Ile
ENST00000589767.1:c.1234G>A (NAGS)	ENSP00000465408.1:p.Val412Ile
ENST00000592915.1:n.1191G>A (NAGS)
NM_153006.2:c.1303G>A (NAGS)	NP_694551.1:p.Val435Ile
XM_011524438.1:c.1268+131G>A (NAGS)	XP_011522740.1:n.1268+131G>A
XM_011524439.1:c.805G>A (NAGS)	XP_011522741.1:p.Val269Ile
XM_011525035.1:c.-463+15947C>T (PYY)	XP_011523337.1:n.-463+15947C>T
XM_011524439.2:c.805G>A (NAGS)	XP_011522741.1:p.Val269Ile
NM_153006.3:c.1303G>A (NAGS) MANE Select	NP_694551.1:p.Val435Ile