Canonical Allele Identifier: CA399725470

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2081677
• ClinVar RCV Id: RCV002995527
• dbSNP Id: rs1293094934
• gnomAD v2: 17-42083471-A-G
• gnomAD v4: 17-44006103-A-G
• MyVariant Identifiers: chr17:g.42083471A>G (hg19) ; chr17:g.44006103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006103A>G , CM000679.2:g.44006103A>G	GRCh38
NC_000017.10:g.42083471A>G , CM000679.1:g.42083471A>G	GRCh37
NC_000017.9:g.39438997A>G	NCBI36
NG_008106.1:g.6440A>G
NG_023338.1:g.3367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.781A>G (NAGS) MANE Select	ENSP00000293404.2:p.Ile261Val
ENST00000293404.7:c.781A>G (NAGS)	ENSP00000293404.2:p.Ile261Val
ENST00000589767.1:c.688A>G (NAGS)	ENSP00000465408.1:p.Ile230Val
ENST00000592915.1:n.56A>G (NAGS)
NM_153006.2:c.781A>G (NAGS)	NP_694551.1:p.Ile261Val
XM_011524438.1:c.781A>G (NAGS)	XP_011522740.1:p.Ile261Val
XM_011524439.1:c.283A>G (NAGS)	XP_011522741.1:p.Ile95Val
XM_011525035.1:c.-463+17469T>C (PYY)	XP_011523337.1:n.-463+17469T>C
XM_011524439.2:c.283A>G (NAGS)	XP_011522741.1:p.Ile95Val
NM_153006.3:c.781A>G (NAGS) MANE Select	NP_694551.1:p.Ile261Val