Canonical Allele Identifier: CA399725742

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1484667
• ClinVar RCV Id: RCV002005973
• dbSNP Id: rs2049088201
• gnomAD v4: 17-44006179-G-A
• MyVariant Identifiers: chr17:g.42083547G>A (hg19) ; chr17:g.44006179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006179G>A , CM000679.2:g.44006179G>A	GRCh38
NC_000017.10:g.42083547G>A , CM000679.1:g.42083547G>A	GRCh37
NC_000017.9:g.39439073G>A	NCBI36
NG_008106.1:g.6516G>A
NG_023338.1:g.3291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.857G>A (NAGS) MANE Select	ENSP00000293404.2:p.Arg286Gln
ENST00000293404.7:c.857G>A (NAGS)	ENSP00000293404.2:p.Arg286Gln
ENST00000589767.1:c.764G>A (NAGS)	ENSP00000465408.1:p.Arg255Gln
ENST00000592915.1:n.132G>A (NAGS)
NM_153006.2:c.857G>A (NAGS)	NP_694551.1:p.Arg286Gln
XM_011524438.1:c.857G>A (NAGS)	XP_011522740.1:p.Arg286Gln
XM_011524439.1:c.359G>A (NAGS)	XP_011522741.1:p.Arg120Gln
XM_011525035.1:c.-463+17393C>T (PYY)	XP_011523337.1:n.-463+17393C>T
XM_011524439.2:c.359G>A (NAGS)	XP_011522741.1:p.Arg120Gln
NM_153006.3:c.857G>A (NAGS) MANE Select	NP_694551.1:p.Arg286Gln