Canonical Allele Identifier: CA8595254

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1137702
• ClinVar RCV Id: RCV001473802
• dbSNP Id: rs373352475
• ExAC: 17:42083602 T / C
• gnomAD v2: 17-42083602-T-C
• gnomAD v3: 17-44006234-T-C
• gnomAD v4: 17-44006234-T-C
• MyVariant Identifiers: chr17:g.42083602T>C (hg19) ; chr17:g.44006234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006234T>C , CM000679.2:g.44006234T>C	GRCh38
NC_000017.10:g.42083602T>C , CM000679.1:g.42083602T>C	GRCh37
NC_000017.9:g.39439128T>C	NCBI36
NG_008106.1:g.6571T>C
NG_023338.1:g.3236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.912T>C (NAGS) MANE Select	ENSP00000293404.2:p.His304=
ENST00000293404.7:c.912T>C (NAGS)	ENSP00000293404.2:p.His304=
ENST00000589767.1:c.819T>C (NAGS)	ENSP00000465408.1:p.His273=
ENST00000592915.1:n.187T>C (NAGS)
NM_153006.2:c.912T>C (NAGS)	NP_694551.1:p.His304=
XM_011524438.1:c.912T>C (NAGS)	XP_011522740.1:p.His304=
XM_011524439.1:c.414T>C (NAGS)	XP_011522741.1:p.His138=
XM_011525035.1:c.-463+17338A>G (PYY)	XP_011523337.1:n.-463+17338A>G
XM_011524439.2:c.414T>C (NAGS)	XP_011522741.1:p.His138=
NM_153006.3:c.912T>C (NAGS) MANE Select	NP_694551.1:p.His304=