Canonical Allele Identifier: CA399726302

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1349525997
• gnomAD v2: 17-42083990-G-A
• gnomAD v4: 17-44006622-G-A
• MyVariant Identifiers: chr17:g.42083990G>A (hg19) ; chr17:g.44006622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006622G>A , CM000679.2:g.44006622G>A	GRCh38
NC_000017.10:g.42083990G>A , CM000679.1:g.42083990G>A	GRCh37
NC_000017.9:g.39439516G>A	NCBI36
NG_008106.1:g.6959G>A
NG_023338.1:g.2848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1009G>A (NAGS) MANE Select	ENSP00000293404.2:p.Val337Met
ENST00000293404.7:c.1009G>A (NAGS)	ENSP00000293404.2:p.Val337Met
ENST00000589767.1:c.916G>A (NAGS)	ENSP00000465408.1:p.Val306Met
ENST00000592915.1:n.284G>A (NAGS)
NM_153006.2:c.1009G>A (NAGS)	NP_694551.1:p.Val337Met
XM_011524438.1:c.1009G>A (NAGS)	XP_011522740.1:p.Val337Met
XM_011524439.1:c.511G>A (NAGS)	XP_011522741.1:p.Val171Met
XM_011525035.1:c.-463+16950C>T (PYY)	XP_011523337.1:n.-463+16950C>T
XM_011524439.2:c.511G>A (NAGS)	XP_011522741.1:p.Val171Met
NM_153006.3:c.1009G>A (NAGS) MANE Select	NP_694551.1:p.Val337Met