Canonical Allele Identifier: CA2638146923

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2744578
• ClinVar RCV Id: RCV003497668
• gnomAD v4: 17-44007507-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007507A>G , CM000679.2:g.44007507A>G	GRCh38
NC_000017.10:g.42084875A>G , CM000679.1:g.42084875A>G	GRCh37
NC_000017.9:g.39440401A>G	NCBI36
NG_008106.1:g.7844A>G
NG_023338.1:g.1963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1268+13A>G (NAGS) MANE Select	ENSP00000293404.2:n.1268+13A>G
ENST00000293404.7:c.1268+13A>G (NAGS)	ENSP00000293404.2:n.1268+13A>G
ENST00000589767.1:c.1175+13A>G (NAGS)	ENSP00000465408.1:n.1175+13A>G
ENST00000592915.1:n.1156+13A>G (NAGS)
NM_153006.2:c.1268+13A>G (NAGS)	NP_694551.1:n.1268+13A>G
XM_011524438.1:c.1268+13A>G (NAGS)	XP_011522740.1:n.1268+13A>G
XM_011524439.1:c.770+13A>G (NAGS)	XP_011522741.1:n.770+13A>G
XM_011525035.1:c.-463+16065T>C (PYY)	XP_011523337.1:n.-463+16065T>C
XM_011524439.2:c.770+13A>G (NAGS)	XP_011522741.1:n.770+13A>G
NM_153006.3:c.1268+13A>G (NAGS) MANE Select	NP_694551.1:n.1268+13A>G