Canonical Allele Identifier: CA8595242

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs575938230
• ExAC: 17:42083567 C / T
• gnomAD v2: 17-42083567-C-T
• gnomAD v3: 17-44006199-C-T
• gnomAD v4: 17-44006199-C-T
• MyVariant Identifiers: chr17:g.42083567C>T (hg19) ; chr17:g.44006199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006199C>T , CM000679.2:g.44006199C>T	GRCh38
NC_000017.10:g.42083567C>T , CM000679.1:g.42083567C>T	GRCh37
NC_000017.9:g.39439093C>T	NCBI36
NG_008106.1:g.6536C>T
NG_023338.1:g.3271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.877C>T (NAGS) MANE Select	ENSP00000293404.2:p.Leu293Phe
ENST00000293404.7:c.877C>T (NAGS)	ENSP00000293404.2:p.Leu293Phe
ENST00000589767.1:c.784C>T (NAGS)	ENSP00000465408.1:p.Leu262Phe
ENST00000592915.1:n.152C>T (NAGS)
NM_153006.2:c.877C>T (NAGS)	NP_694551.1:p.Leu293Phe
XM_011524438.1:c.877C>T (NAGS)	XP_011522740.1:p.Leu293Phe
XM_011524439.1:c.379C>T (NAGS)	XP_011522741.1:p.Leu127Phe
XM_011525035.1:c.-463+17373G>A (PYY)	XP_011523337.1:n.-463+17373G>A
XM_011524439.2:c.379C>T (NAGS)	XP_011522741.1:p.Leu127Phe
NM_153006.3:c.877C>T (NAGS) MANE Select	NP_694551.1:p.Leu293Phe