Canonical Allele Identifier: CA399726580

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1286806838
• gnomAD v2: 17-42084074-A-G
• gnomAD v4: 17-44006706-A-G
• MyVariant Identifiers: chr17:g.42084074A>G (hg19) ; chr17:g.44006706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006706A>G , CM000679.2:g.44006706A>G	GRCh38
NC_000017.10:g.42084074A>G , CM000679.1:g.42084074A>G	GRCh37
NC_000017.9:g.39439600A>G	NCBI36
NG_008106.1:g.7043A>G
NG_023338.1:g.2764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1093A>G (NAGS) MANE Select	ENSP00000293404.2:p.Lys365Glu
ENST00000293404.7:c.1093A>G (NAGS)	ENSP00000293404.2:p.Lys365Glu
ENST00000589767.1:c.1000A>G (NAGS)	ENSP00000465408.1:p.Lys334Glu
ENST00000592915.1:n.368A>G (NAGS)
NM_153006.2:c.1093A>G (NAGS)	NP_694551.1:p.Lys365Glu
XM_011524438.1:c.1093A>G (NAGS)	XP_011522740.1:p.Lys365Glu
XM_011524439.1:c.595A>G (NAGS)	XP_011522741.1:p.Lys199Glu
XM_011525035.1:c.-463+16866T>C (PYY)	XP_011523337.1:n.-463+16866T>C
XM_011524439.2:c.595A>G (NAGS)	XP_011522741.1:p.Lys199Glu
NM_153006.3:c.1093A>G (NAGS) MANE Select	NP_694551.1:p.Lys365Glu