Canonical Allele Identifier: CA8595233

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs754658126
• ExAC: 17:42083526 C / T
• gnomAD v2: 17-42083526-C-T
• gnomAD v4: 17-44006158-C-T
• MyVariant Identifiers: chr17:g.42083526C>T (hg19) ; chr17:g.44006158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006158C>T , CM000679.2:g.44006158C>T	GRCh38
NC_000017.10:g.42083526C>T , CM000679.1:g.42083526C>T	GRCh37
NC_000017.9:g.39439052C>T	NCBI36
NG_008106.1:g.6495C>T
NG_023338.1:g.3312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.836C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ala279Val
ENST00000293404.7:c.836C>T (NAGS)	ENSP00000293404.2:p.Ala279Val
ENST00000589767.1:c.743C>T (NAGS)	ENSP00000465408.1:p.Ala248Val
ENST00000592915.1:n.111C>T (NAGS)
NM_153006.2:c.836C>T (NAGS)	NP_694551.1:p.Ala279Val
XM_011524438.1:c.836C>T (NAGS)	XP_011522740.1:p.Ala279Val
XM_011524439.1:c.338C>T (NAGS)	XP_011522741.1:p.Ala113Val
XM_011525035.1:c.-463+17414G>A (PYY)	XP_011523337.1:n.-463+17414G>A
XM_011524439.2:c.338C>T (NAGS)	XP_011522741.1:p.Ala113Val
NM_153006.3:c.836C>T (NAGS) MANE Select	NP_694551.1:p.Ala279Val