Canonical Allele Identifier: CA8595392

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1135418
• ClinVar RCV Id: RCV001470725
• dbSNP Id: rs769484401
• ExAC: 17:42085106 C / T
• gnomAD v2: 17-42085106-C-T
• gnomAD v4: 17-44007738-C-T
• MyVariant Identifiers: chr17:g.42085106C>T (hg19) ; chr17:g.44007738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007738C>T , CM000679.2:g.44007738C>T	GRCh38
NC_000017.10:g.42085106C>T , CM000679.1:g.42085106C>T	GRCh37
NC_000017.9:g.39440632C>T	NCBI36
NG_008106.1:g.8075C>T
NG_023338.1:g.1732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1416C>T (NAGS) MANE Select	ENSP00000293404.2:p.Phe472=
ENST00000293404.7:c.1416C>T (NAGS)	ENSP00000293404.2:p.Phe472=
ENST00000589767.1:c.1347C>T (NAGS)	ENSP00000465408.1:p.Phe449=
ENST00000592915.1:n.1304C>T (NAGS)
NM_153006.2:c.1416C>T (NAGS)	NP_694551.1:p.Phe472=
XM_011524438.1:c.1268+244C>T (NAGS)	XP_011522740.1:n.1268+244C>T
XM_011524439.1:c.918C>T (NAGS)	XP_011522741.1:p.Phe306=
XM_011525035.1:c.-463+15834G>A (PYY)	XP_011523337.1:n.-463+15834G>A
XM_011524439.2:c.918C>T (NAGS)	XP_011522741.1:p.Phe306=
NM_153006.3:c.1416C>T (NAGS) MANE Select	NP_694551.1:p.Phe472=