Canonical Allele Identifier: CA8595422

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs763747459
• ExAC: 17:42085158 C / A
• gnomAD v4: 17-44007790-C-A
• MyVariant Identifiers: chr17:g.42085158C>A (hg19) ; chr17:g.44007790C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007790C>A , CM000679.2:g.44007790C>A	GRCh38
NC_000017.10:g.42085158C>A , CM000679.1:g.42085158C>A	GRCh37
NC_000017.9:g.39440684C>A	NCBI36
NG_008106.1:g.8127C>A
NG_023338.1:g.1680G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1451+17C>A (NAGS) MANE Select	ENSP00000293404.2:n.1451+17C>A
ENST00000293404.7:c.1451+17C>A (NAGS)	ENSP00000293404.2:n.1451+17C>A
ENST00000589767.1:c.1382+17C>A (NAGS)	ENSP00000465408.1:n.1382+17C>A
ENST00000592915.1:n.1339+17C>A (NAGS)
NM_153006.2:c.1451+17C>A (NAGS)	NP_694551.1:n.1451+17C>A
XM_011524438.1:c.1268+296C>A (NAGS)	XP_011522740.1:n.1268+296C>A
XM_011524439.1:c.953+17C>A (NAGS)	XP_011522741.1:n.953+17C>A
XM_011525035.1:c.-463+15782G>T (PYY)	XP_011523337.1:n.-463+15782G>T
XM_011524439.2:c.953+17C>A (NAGS)	XP_011522741.1:n.953+17C>A
NM_153006.3:c.1451+17C>A (NAGS) MANE Select	NP_694551.1:n.1451+17C>A