Canonical Allele Identifier: CA312792

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 203863
• ClinVar RCV Id: RCV000186064 ; RCV000275672 ; RCV000509242
• dbSNP Id: rs55708447
• ExAC: 17:42084067 T / C
• gnomAD v2: 17-42084067-T-C
• gnomAD v3: 17-44006699-T-C
• gnomAD v4: 17-44006699-T-C
• MyVariant Identifiers: chr17:g.42084067T>C (hg19) ; chr17:g.44006699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006699T>C , CM000679.2:g.44006699T>C	GRCh38
NC_000017.10:g.42084067T>C , CM000679.1:g.42084067T>C	GRCh37
NC_000017.9:g.39439593T>C	NCBI36
NG_008106.1:g.7036T>C
NG_023338.1:g.2771A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1086T>C (NAGS) MANE Select	ENSP00000293404.2:p.Phe362=
ENST00000293404.7:c.1086T>C (NAGS)	ENSP00000293404.2:p.Phe362=
ENST00000589767.1:c.993T>C (NAGS)	ENSP00000465408.1:p.Phe331=
ENST00000592915.1:n.361T>C (NAGS)
NM_153006.2:c.1086T>C (NAGS)	NP_694551.1:p.Phe362=
XM_011524438.1:c.1086T>C (NAGS)	XP_011522740.1:p.Phe362=
XM_011524439.1:c.588T>C (NAGS)	XP_011522741.1:p.Phe196=
XM_011525035.1:c.-463+16873A>G (PYY)	XP_011523337.1:n.-463+16873A>G
XM_011524439.2:c.588T>C (NAGS)	XP_011522741.1:p.Phe196=
NM_153006.3:c.1086T>C (NAGS) MANE Select	NP_694551.1:p.Phe362=