Canonical Allele Identifier: CA399728050

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1250504913
• gnomAD v2: 17-42085114-C-T
• MyVariant Identifiers: chr17:g.42085114C>T (hg19) ; chr17:g.44007746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007746C>T , CM000679.2:g.44007746C>T	GRCh38
NC_000017.10:g.42085114C>T , CM000679.1:g.42085114C>T	GRCh37
NC_000017.9:g.39440640C>T	NCBI36
NG_008106.1:g.8083C>T
NG_023338.1:g.1724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1424C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ser475Phe
ENST00000293404.7:c.1424C>T (NAGS)	ENSP00000293404.2:p.Ser475Phe
ENST00000589767.1:c.1355C>T (NAGS)	ENSP00000465408.1:p.Ser452Phe
ENST00000592915.1:n.1312C>T (NAGS)
NM_153006.2:c.1424C>T (NAGS)	NP_694551.1:p.Ser475Phe
XM_011524438.1:c.1268+252C>T (NAGS)	XP_011522740.1:n.1268+252C>T
XM_011524439.1:c.926C>T (NAGS)	XP_011522741.1:p.Ser309Phe
XM_011525035.1:c.-463+15826G>A (PYY)	XP_011523337.1:n.-463+15826G>A
XM_011524439.2:c.926C>T (NAGS)	XP_011522741.1:p.Ser309Phe
NM_153006.3:c.1424C>T (NAGS) MANE Select	NP_694551.1:p.Ser475Phe