Canonical Allele Identifier: CA399725769

Gene: NAGS PYY

Linked Data

• COSMIC: COSM1719612
• MyVariant Identifiers: chr17:g.42083553C>T (hg19) ; chr17:g.44006185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006185C>T , CM000679.2:g.44006185C>T	GRCh38
NC_000017.10:g.42083553C>T , CM000679.1:g.42083553C>T	GRCh37
NC_000017.9:g.39439079C>T	NCBI36
NG_008106.1:g.6522C>T
NG_023338.1:g.3285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.863C>T (NAGS) MANE Select	ENSP00000293404.2:p.Thr288Ile
ENST00000293404.7:c.863C>T (NAGS)	ENSP00000293404.2:p.Thr288Ile
ENST00000589767.1:c.770C>T (NAGS)	ENSP00000465408.1:p.Thr257Ile
ENST00000592915.1:n.138C>T (NAGS)
NM_153006.2:c.863C>T (NAGS)	NP_694551.1:p.Thr288Ile
XM_011524438.1:c.863C>T (NAGS)	XP_011522740.1:p.Thr288Ile
XM_011524439.1:c.365C>T (NAGS)	XP_011522741.1:p.Thr122Ile
XM_011525035.1:c.-463+17387G>A (PYY)	XP_011523337.1:n.-463+17387G>A
XM_011524439.2:c.365C>T (NAGS)	XP_011522741.1:p.Thr122Ile
NM_153006.3:c.863C>T (NAGS) MANE Select	NP_694551.1:p.Thr288Ile