Canonical Allele Identifier: CA399727911

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1415932408
• gnomAD v2: 17-42085084-G-A
• gnomAD v4: 17-44007716-G-A
• MyVariant Identifiers: chr17:g.42085084G>A (hg19) ; chr17:g.44007716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007716G>A , CM000679.2:g.44007716G>A	GRCh38
NC_000017.10:g.42085084G>A , CM000679.1:g.42085084G>A	GRCh37
NC_000017.9:g.39440610G>A	NCBI36
NG_008106.1:g.8053G>A
NG_023338.1:g.1754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1394G>A (NAGS) MANE Select	ENSP00000293404.2:p.Arg465Gln
ENST00000293404.7:c.1394G>A (NAGS)	ENSP00000293404.2:p.Arg465Gln
ENST00000589767.1:c.1325G>A (NAGS)	ENSP00000465408.1:p.Arg442Gln
ENST00000592915.1:n.1282G>A (NAGS)
NM_153006.2:c.1394G>A (NAGS)	NP_694551.1:p.Arg465Gln
XM_011524438.1:c.1268+222G>A (NAGS)	XP_011522740.1:n.1268+222G>A
XM_011524439.1:c.896G>A (NAGS)	XP_011522741.1:p.Arg299Gln
XM_011525035.1:c.-463+15856C>T (PYY)	XP_011523337.1:n.-463+15856C>T
XM_011524439.2:c.896G>A (NAGS)	XP_011522741.1:p.Arg299Gln
NM_153006.3:c.1394G>A (NAGS) MANE Select	NP_694551.1:p.Arg465Gln