Canonical Allele Identifier: CA399728043

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1208633488
• gnomAD v2: 17-42085113-T-G
• gnomAD v4: 17-44007745-T-G
• MyVariant Identifiers: chr17:g.42085113T>G (hg19) ; chr17:g.44007745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007745T>G , CM000679.2:g.44007745T>G	GRCh38
NC_000017.10:g.42085113T>G , CM000679.1:g.42085113T>G	GRCh37
NC_000017.9:g.39440639T>G	NCBI36
NG_008106.1:g.8082T>G
NG_023338.1:g.1725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1423T>G (NAGS) MANE Select	ENSP00000293404.2:p.Ser475Ala
ENST00000293404.7:c.1423T>G (NAGS)	ENSP00000293404.2:p.Ser475Ala
ENST00000589767.1:c.1354T>G (NAGS)	ENSP00000465408.1:p.Ser452Ala
ENST00000592915.1:n.1311T>G (NAGS)
NM_153006.2:c.1423T>G (NAGS)	NP_694551.1:p.Ser475Ala
XM_011524438.1:c.1268+251T>G (NAGS)	XP_011522740.1:n.1268+251T>G
XM_011524439.1:c.925T>G (NAGS)	XP_011522741.1:p.Ser309Ala
XM_011525035.1:c.-463+15827A>C (PYY)	XP_011523337.1:n.-463+15827A>C
XM_011524439.2:c.925T>G (NAGS)	XP_011522741.1:p.Ser309Ala
NM_153006.3:c.1423T>G (NAGS) MANE Select	NP_694551.1:p.Ser475Ala