Canonical Allele Identifier: CA500241091

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1528689
• ClinVar RCV Id: RCV002077613
• dbSNP Id: rs2143987016
• gnomAD v4: 17-44006579-C-T
• MyVariant Identifiers: chr17:g.42083947C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006579C>T , CM000679.2:g.44006579C>T	GRCh38
NC_000017.10:g.42083947C>T , CM000679.1:g.42083947C>T	GRCh37
NC_000017.9:g.39439473C>T	NCBI36
NG_008106.1:g.6916C>T
NG_023338.1:g.2891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.966C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ala322=
ENST00000293404.7:c.966C>T (NAGS)	ENSP00000293404.2:p.Ala322=
ENST00000589767.1:c.873C>T (NAGS)	ENSP00000465408.1:p.Ala291=
ENST00000592915.1:n.241C>T (NAGS)
NM_153006.2:c.966C>T (NAGS)	NP_694551.1:p.Ala322=
XM_011524438.1:c.966C>T (NAGS)	XP_011522740.1:p.Ala322=
XM_011524439.1:c.468C>T (NAGS)	XP_011522741.1:p.Ala156=
XM_011525035.1:c.-463+16993G>A (PYY)	XP_011523337.1:n.-463+16993G>A
XM_011524439.2:c.468C>T (NAGS)	XP_011522741.1:p.Ala156=
NM_153006.3:c.966C>T (NAGS) MANE Select	NP_694551.1:p.Ala322=