Canonical Allele Identifier: CA399728545

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2676922
• ClinVar RCV Id: RCV003463089
• MyVariant Identifiers: chr17:g.42085141G>A (hg19) ; chr17:g.44007773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007773G>A , CM000679.2:g.44007773G>A	GRCh38
NC_000017.10:g.42085141G>A , CM000679.1:g.42085141G>A	GRCh37
NC_000017.9:g.39440667G>A	NCBI36
NG_008106.1:g.8110G>A
NG_023338.1:g.1697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1451G>A (NAGS) MANE Select	ENSP00000293404.2:p.Trp484Ter
ENST00000293404.7:c.1451G>A (NAGS)	ENSP00000293404.2:p.Trp484Ter
ENST00000589767.1:c.1382G>A (NAGS)	ENSP00000465408.1:p.Trp461Ter
ENST00000592915.1:n.1339G>A (NAGS)
NM_153006.2:c.1451G>A (NAGS)	NP_694551.1:p.Trp484Ter
XM_011524438.1:c.1268+279G>A (NAGS)	XP_011522740.1:n.1268+279G>A
XM_011524439.1:c.953G>A (NAGS)	XP_011522741.1:p.Trp318Ter
XM_011525035.1:c.-463+15799C>T (PYY)	XP_011523337.1:n.-463+15799C>T
XM_011524439.2:c.953G>A (NAGS)	XP_011522741.1:p.Trp318Ter
NM_153006.3:c.1451G>A (NAGS) MANE Select	NP_694551.1:p.Trp484Ter