Canonical Allele Identifier: CA399726465

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1021290
• ClinVar RCV Id: RCV001321026
• dbSNP Id: rs1320094253
• gnomAD v2: 17-42084038-G-T
• gnomAD v4: 17-44006670-G-T
• MyVariant Identifiers: chr17:g.42084038G>T (hg19) ; chr17:g.44006670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006670G>T , CM000679.2:g.44006670G>T	GRCh38
NC_000017.10:g.42084038G>T , CM000679.1:g.42084038G>T	GRCh37
NC_000017.9:g.39439564G>T	NCBI36
NG_008106.1:g.7007G>T
NG_023338.1:g.2800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1057G>T (NAGS) MANE Select	ENSP00000293404.2:p.Ala353Ser
ENST00000293404.7:c.1057G>T (NAGS)	ENSP00000293404.2:p.Ala353Ser
ENST00000589767.1:c.964G>T (NAGS)	ENSP00000465408.1:p.Ala322Ser
ENST00000592915.1:n.332G>T (NAGS)
NM_153006.2:c.1057G>T (NAGS)	NP_694551.1:p.Ala353Ser
XM_011524438.1:c.1057G>T (NAGS)	XP_011522740.1:p.Ala353Ser
XM_011524439.1:c.559G>T (NAGS)	XP_011522741.1:p.Ala187Ser
XM_011525035.1:c.-463+16902C>A (PYY)	XP_011523337.1:n.-463+16902C>A
XM_011524439.2:c.559G>T (NAGS)	XP_011522741.1:p.Ala187Ser
NM_153006.3:c.1057G>T (NAGS) MANE Select	NP_694551.1:p.Ala353Ser