Canonical Allele Identifier: CA399727753

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1368466817
• gnomAD v2: 17-42085041-C-T
• gnomAD v4: 17-44007673-C-T
• MyVariant Identifiers: chr17:g.42085041C>T (hg19) ; chr17:g.44007673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007673C>T , CM000679.2:g.44007673C>T	GRCh38
NC_000017.10:g.42085041C>T , CM000679.1:g.42085041C>T	GRCh37
NC_000017.9:g.39440567C>T	NCBI36
NG_008106.1:g.8010C>T
NG_023338.1:g.1797G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1351C>T (NAGS) MANE Select	ENSP00000293404.2:p.Arg451Cys
ENST00000293404.7:c.1351C>T (NAGS)	ENSP00000293404.2:p.Arg451Cys
ENST00000589767.1:c.1282C>T (NAGS)	ENSP00000465408.1:p.Arg428Cys
ENST00000592915.1:n.1239C>T (NAGS)
NM_153006.2:c.1351C>T (NAGS)	NP_694551.1:p.Arg451Cys
XM_011524438.1:c.1268+179C>T (NAGS)	XP_011522740.1:n.1268+179C>T
XM_011524439.1:c.853C>T (NAGS)	XP_011522741.1:p.Arg285Cys
XM_011525035.1:c.-463+15899G>A (PYY)	XP_011523337.1:n.-463+15899G>A
XM_011524439.2:c.853C>T (NAGS)	XP_011522741.1:p.Arg285Cys
NM_153006.3:c.1351C>T (NAGS) MANE Select	NP_694551.1:p.Arg451Cys