Canonical Allele Identifier: CA399725798

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2432020
• ClinVar RCV Id: RCV003142548
• gnomAD v4: 17-44006194-T-A
• MyVariant Identifiers: chr17:g.42083562T>A (hg19) ; chr17:g.44006194T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006194T>A , CM000679.2:g.44006194T>A	GRCh38
NC_000017.10:g.42083562T>A , CM000679.1:g.42083562T>A	GRCh37
NC_000017.9:g.39439088T>A	NCBI36
NG_008106.1:g.6531T>A
NG_023338.1:g.3276A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.872T>A (NAGS) MANE Select	ENSP00000293404.2:p.Ile291Asn
ENST00000293404.7:c.872T>A (NAGS)	ENSP00000293404.2:p.Ile291Asn
ENST00000589767.1:c.779T>A (NAGS)	ENSP00000465408.1:p.Ile260Asn
ENST00000592915.1:n.147T>A (NAGS)
NM_153006.2:c.872T>A (NAGS)	NP_694551.1:p.Ile291Asn
XM_011524438.1:c.872T>A (NAGS)	XP_011522740.1:p.Ile291Asn
XM_011524439.1:c.374T>A (NAGS)	XP_011522741.1:p.Ile125Asn
XM_011525035.1:c.-463+17378A>T (PYY)	XP_011523337.1:n.-463+17378A>T
XM_011524439.2:c.374T>A (NAGS)	XP_011522741.1:p.Ile125Asn
NM_153006.3:c.872T>A (NAGS) MANE Select	NP_694551.1:p.Ile291Asn