Canonical Allele Identifier: CA399726633

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 970970
• ClinVar RCV Id: RCV001246639
• dbSNP Id: rs2049106256
• gnomAD v4: 17-44007321-A-G
• MyVariant Identifiers: chr17:g.42084689A>G (hg19) ; chr17:g.44007321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007321A>G , CM000679.2:g.44007321A>G	GRCh38
NC_000017.10:g.42084689A>G , CM000679.1:g.42084689A>G	GRCh37
NC_000017.9:g.39440215A>G	NCBI36
NG_008106.1:g.7658A>G
NG_023338.1:g.2149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1097-2A>G (NAGS) MANE Select	ENSP00000293404.2:n.1097-2A>G
ENST00000293404.7:c.1097-2A>G (NAGS)	ENSP00000293404.2:n.1097-2A>G
ENST00000589767.1:c.1004-2A>G (NAGS)	ENSP00000465408.1:n.1004-2A>G
ENST00000592915.1:n.983A>G (NAGS)
NM_153006.2:c.1097-2A>G (NAGS)	NP_694551.1:n.1097-2A>G
XM_011524438.1:c.1097-2A>G (NAGS)	XP_011522740.1:n.1097-2A>G
XM_011524439.1:c.599-2A>G (NAGS)	XP_011522741.1:n.599-2A>G
XM_011525035.1:c.-463+16251T>C (PYY)	XP_011523337.1:n.-463+16251T>C
XM_011524439.2:c.599-2A>G (NAGS)	XP_011522741.1:n.599-2A>G
NM_153006.3:c.1097-2A>G (NAGS) MANE Select	NP_694551.1:n.1097-2A>G