Canonical Allele Identifier: CA500616196

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1661574
• ClinVar RCV Id: RCV002193150
• dbSNP Id: rs1433560187
• gnomAD v2: 17-42083596-C-T
• MyVariant Identifiers: chr17:g.42083596C>T (hg19) ; chr17:g.44006228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006228C>T , CM000679.2:g.44006228C>T	GRCh38
NC_000017.10:g.42083596C>T , CM000679.1:g.42083596C>T	GRCh37
NC_000017.9:g.39439122C>T	NCBI36
NG_008106.1:g.6565C>T
NG_023338.1:g.3242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.906C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ser302=
ENST00000293404.7:c.906C>T (NAGS)	ENSP00000293404.2:p.Ser302=
ENST00000589767.1:c.813C>T (NAGS)	ENSP00000465408.1:p.Ser271=
ENST00000592915.1:n.181C>T (NAGS)
NM_153006.2:c.906C>T (NAGS)	NP_694551.1:p.Ser302=
XM_011524438.1:c.906C>T (NAGS)	XP_011522740.1:p.Ser302=
XM_011524439.1:c.408C>T (NAGS)	XP_011522741.1:p.Ser136=
XM_011525035.1:c.-463+17344G>A (PYY)	XP_011523337.1:n.-463+17344G>A
XM_011524439.2:c.408C>T (NAGS)	XP_011522741.1:p.Ser136=
NM_153006.3:c.906C>T (NAGS) MANE Select	NP_694551.1:p.Ser302=