Canonical Allele Identifier: CA8595277

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2183340
• ClinVar RCV Id: RCV002592478
• dbSNP Id: rs780597835
• ExAC: 17:42083917 G / A
• gnomAD v2: 17-42083917-G-A
• gnomAD v3: 17-44006549-G-A
• gnomAD v4: 17-44006549-G-A
• MyVariant Identifiers: chr17:g.42083917G>A (hg19) ; chr17:g.44006549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006549G>A , CM000679.2:g.44006549G>A	GRCh38
NC_000017.10:g.42083917G>A , CM000679.1:g.42083917G>A	GRCh37
NC_000017.9:g.39439443G>A	NCBI36
NG_008106.1:g.6886G>A
NG_023338.1:g.2921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.936G>A (NAGS) MANE Select	ENSP00000293404.2:p.Leu312=
ENST00000293404.7:c.936G>A (NAGS)	ENSP00000293404.2:p.Leu312=
ENST00000589767.1:c.843G>A (NAGS)	ENSP00000465408.1:p.Leu281=
ENST00000592915.1:n.211G>A (NAGS)
NM_153006.2:c.936G>A (NAGS)	NP_694551.1:p.Leu312=
XM_011524438.1:c.936G>A (NAGS)	XP_011522740.1:p.Leu312=
XM_011524439.1:c.438G>A (NAGS)	XP_011522741.1:p.Leu146=
XM_011525035.1:c.-463+17023C>T (PYY)	XP_011523337.1:n.-463+17023C>T
XM_011524439.2:c.438G>A (NAGS)	XP_011522741.1:p.Leu146=
NM_153006.3:c.936G>A (NAGS) MANE Select	NP_694551.1:p.Leu312=