Canonical Allele Identifier: CA8595275

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs551054997
• ExAC: 17:42083908 C / G
• gnomAD v3: 17-44006540-C-G
• gnomAD v4: 17-44006540-C-G
• MyVariant Identifiers: chr17:g.42083908C>G (hg19) ; chr17:g.44006540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006540C>G , CM000679.2:g.44006540C>G	GRCh38
NC_000017.10:g.42083908C>G , CM000679.1:g.42083908C>G	GRCh37
NC_000017.9:g.39439434C>G	NCBI36
NG_008106.1:g.6877C>G
NG_023338.1:g.2930G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.927C>G (NAGS) MANE Select	ENSP00000293404.2:p.Asn309Lys
ENST00000293404.7:c.927C>G (NAGS)	ENSP00000293404.2:p.Asn309Lys
ENST00000589767.1:c.834C>G (NAGS)	ENSP00000465408.1:p.Asn278Lys
ENST00000592915.1:n.202C>G (NAGS)
NM_153006.2:c.927C>G (NAGS)	NP_694551.1:p.Asn309Lys
XM_011524438.1:c.927C>G (NAGS)	XP_011522740.1:p.Asn309Lys
XM_011524439.1:c.429C>G (NAGS)	XP_011522741.1:p.Asn143Lys
XM_011525035.1:c.-463+17032G>C (PYY)	XP_011523337.1:n.-463+17032G>C
XM_011524439.2:c.429C>G (NAGS)	XP_011522741.1:p.Asn143Lys
NM_153006.3:c.927C>G (NAGS) MANE Select	NP_694551.1:p.Asn309Lys