Canonical Allele Identifier: CA8595339

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1086590
• ClinVar RCV Id: RCV001404400
• dbSNP Id: rs751627477
• ExAC: 17:42084791 C / T
• gnomAD v2: 17-42084791-C-T
• gnomAD v3: 17-44007423-C-T
• gnomAD v4: 17-44007423-C-T
• MyVariant Identifiers: chr17:g.42084791C>T (hg19) ; chr17:g.44007423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007423C>T , CM000679.2:g.44007423C>T	GRCh38
NC_000017.10:g.42084791C>T , CM000679.1:g.42084791C>T	GRCh37
NC_000017.9:g.39440317C>T	NCBI36
NG_008106.1:g.7760C>T
NG_023338.1:g.2047G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1197C>T (NAGS) MANE Select	ENSP00000293404.2:p.Phe399=
ENST00000293404.7:c.1197C>T (NAGS)	ENSP00000293404.2:p.Phe399=
ENST00000589767.1:c.1104C>T (NAGS)	ENSP00000465408.1:p.Phe368=
ENST00000592915.1:n.1085C>T (NAGS)
NM_153006.2:c.1197C>T (NAGS)	NP_694551.1:p.Phe399=
XM_011524438.1:c.1197C>T (NAGS)	XP_011522740.1:p.Phe399=
XM_011524439.1:c.699C>T (NAGS)	XP_011522741.1:p.Phe233=
XM_011525035.1:c.-463+16149G>A (PYY)	XP_011523337.1:n.-463+16149G>A
XM_011524439.2:c.699C>T (NAGS)	XP_011522741.1:p.Phe233=
NM_153006.3:c.1197C>T (NAGS) MANE Select	NP_694551.1:p.Phe399=