Canonical Allele Identifier: CA399727947

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1597866579
• MyVariant Identifiers: chr17:g.42085093T>C (hg19) ; chr17:g.44007725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007725T>C , CM000679.2:g.44007725T>C	GRCh38
NC_000017.10:g.42085093T>C , CM000679.1:g.42085093T>C	GRCh37
NC_000017.9:g.39440619T>C	NCBI36
NG_008106.1:g.8062T>C
NG_023338.1:g.1745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1403T>C (NAGS) MANE Select	ENSP00000293404.2:p.Leu468Pro
ENST00000293404.7:c.1403T>C (NAGS)	ENSP00000293404.2:p.Leu468Pro
ENST00000589767.1:c.1334T>C (NAGS)	ENSP00000465408.1:p.Leu445Pro
ENST00000592915.1:n.1291T>C (NAGS)
NM_153006.2:c.1403T>C (NAGS)	NP_694551.1:p.Leu468Pro
XM_011524438.1:c.1268+231T>C (NAGS)	XP_011522740.1:n.1268+231T>C
XM_011524439.1:c.905T>C (NAGS)	XP_011522741.1:p.Leu302Pro
XM_011525035.1:c.-463+15847A>G (PYY)	XP_011523337.1:n.-463+15847A>G
XM_011524439.2:c.905T>C (NAGS)	XP_011522741.1:p.Leu302Pro
NM_153006.3:c.1403T>C (NAGS) MANE Select	NP_694551.1:p.Leu468Pro