Canonical Allele Identifier: CA500241068

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2011768
• ClinVar RCV Id: RCV002838652
• gnomAD v4: 17-44006552-C-G
• MyVariant Identifiers: chr17:g.42083920C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006552C>G , CM000679.2:g.44006552C>G	GRCh38
NC_000017.10:g.42083920C>G , CM000679.1:g.42083920C>G	GRCh37
NC_000017.9:g.39439446C>G	NCBI36
NG_008106.1:g.6889C>G
NG_023338.1:g.2918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.939C>G (NAGS) MANE Select	ENSP00000293404.2:p.Pro313=
ENST00000293404.7:c.939C>G (NAGS)	ENSP00000293404.2:p.Pro313=
ENST00000589767.1:c.846C>G (NAGS)	ENSP00000465408.1:p.Pro282=
ENST00000592915.1:n.214C>G (NAGS)
NM_153006.2:c.939C>G (NAGS)	NP_694551.1:p.Pro313=
XM_011524438.1:c.939C>G (NAGS)	XP_011522740.1:p.Pro313=
XM_011524439.1:c.441C>G (NAGS)	XP_011522741.1:p.Pro147=
XM_011525035.1:c.-463+17020G>C (PYY)	XP_011523337.1:n.-463+17020G>C
XM_011524439.2:c.441C>G (NAGS)	XP_011522741.1:p.Pro147=
NM_153006.3:c.939C>G (NAGS) MANE Select	NP_694551.1:p.Pro313=