Canonical Allele Identifier: CA500616191

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1087901
• ClinVar RCV Id: RCV001406188
• dbSNP Id: rs753318804
• gnomAD v4: 17-44006222-C-G
• MyVariant Identifiers: chr17:g.42083590C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006222C>G , CM000679.2:g.44006222C>G	GRCh38
NC_000017.10:g.42083590C>G , CM000679.1:g.42083590C>G	GRCh37
NC_000017.9:g.39439116C>G	NCBI36
NG_008106.1:g.6559C>G
NG_023338.1:g.3248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.900C>G (NAGS) MANE Select	ENSP00000293404.2:p.Arg300=
ENST00000293404.7:c.900C>G (NAGS)	ENSP00000293404.2:p.Arg300=
ENST00000589767.1:c.807C>G (NAGS)	ENSP00000465408.1:p.Arg269=
ENST00000592915.1:n.175C>G (NAGS)
NM_153006.2:c.900C>G (NAGS)	NP_694551.1:p.Arg300=
XM_011524438.1:c.900C>G (NAGS)	XP_011522740.1:p.Arg300=
XM_011524439.1:c.402C>G (NAGS)	XP_011522741.1:p.Arg134=
XM_011525035.1:c.-463+17350G>C (PYY)	XP_011523337.1:n.-463+17350G>C
XM_011524439.2:c.402C>G (NAGS)	XP_011522741.1:p.Arg134=
NM_153006.3:c.900C>G (NAGS) MANE Select	NP_694551.1:p.Arg300=