Canonical Allele Identifier: CA290853233

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1984914
• ClinVar RCV Id: RCV002756934
• dbSNP Id: rs944235588
• gnomAD v4: 17-44006726-G-A
• MyVariant Identifiers: chr17:g.42084094G>A (hg19) ; chr17:g.44006726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006726G>A , CM000679.2:g.44006726G>A	GRCh38
NC_000017.10:g.42084094G>A , CM000679.1:g.42084094G>A	GRCh37
NC_000017.9:g.39439620G>A	NCBI36
NG_008106.1:g.7063G>A
NG_023338.1:g.2744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1096+17G>A (NAGS) MANE Select	ENSP00000293404.2:n.1096+17G>A
ENST00000293404.7:c.1096+17G>A (NAGS)	ENSP00000293404.2:n.1096+17G>A
ENST00000589767.1:c.1003+17G>A (NAGS)	ENSP00000465408.1:n.1003+17G>A
ENST00000592915.1:n.388G>A (NAGS)
NM_153006.2:c.1096+17G>A (NAGS)	NP_694551.1:n.1096+17G>A
XM_011524438.1:c.1096+17G>A (NAGS)	XP_011522740.1:n.1096+17G>A
XM_011524439.1:c.598+17G>A (NAGS)	XP_011522741.1:n.598+17G>A
XM_011525035.1:c.-463+16846C>T (PYY)	XP_011523337.1:n.-463+16846C>T
XM_011524439.2:c.598+17G>A (NAGS)	XP_011522741.1:n.598+17G>A
NM_153006.3:c.1096+17G>A (NAGS) MANE Select	NP_694551.1:n.1096+17G>A