Canonical Allele Identifier: CA8595383

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1080978
• ClinVar RCV Id: RCV001396814
• dbSNP Id: rs759863903
• ExAC: 17:42085037 C / T
• gnomAD v2: 17-42085037-C-T
• gnomAD v4: 17-44007669-C-T
• MyVariant Identifiers: chr17:g.42085037C>T (hg19) ; chr17:g.44007669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007669C>T , CM000679.2:g.44007669C>T	GRCh38
NC_000017.10:g.42085037C>T , CM000679.1:g.42085037C>T	GRCh37
NC_000017.9:g.39440563C>T	NCBI36
NG_008106.1:g.8006C>T
NG_023338.1:g.1801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1347C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ser449=
ENST00000293404.7:c.1347C>T (NAGS)	ENSP00000293404.2:p.Ser449=
ENST00000589767.1:c.1278C>T (NAGS)	ENSP00000465408.1:p.Ser426=
ENST00000592915.1:n.1235C>T (NAGS)
NM_153006.2:c.1347C>T (NAGS)	NP_694551.1:p.Ser449=
XM_011524438.1:c.1268+175C>T (NAGS)	XP_011522740.1:n.1268+175C>T
XM_011524439.1:c.849C>T (NAGS)	XP_011522741.1:p.Ser283=
XM_011525035.1:c.-463+15903G>A (PYY)	XP_011523337.1:n.-463+15903G>A
XM_011524439.2:c.849C>T (NAGS)	XP_011522741.1:p.Ser283=
NM_153006.3:c.1347C>T (NAGS) MANE Select	NP_694551.1:p.Ser449=