Canonical Allele Identifier: CA8595224

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1597609
• ClinVar RCV Id: RCV002119954
• dbSNP Id: rs763221725
• ExAC: 17:42083485 C / T
• gnomAD v2: 17-42083485-C-T
• gnomAD v4: 17-44006117-C-T
• MyVariant Identifiers: chr17:g.42083485C>T (hg19) ; chr17:g.44006117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006117C>T , CM000679.2:g.44006117C>T	GRCh38
NC_000017.10:g.42083485C>T , CM000679.1:g.42083485C>T	GRCh37
NC_000017.9:g.39439011C>T	NCBI36
NG_008106.1:g.6454C>T
NG_023338.1:g.3353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.795C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ala265=
ENST00000293404.7:c.795C>T (NAGS)	ENSP00000293404.2:p.Ala265=
ENST00000589767.1:c.702C>T (NAGS)	ENSP00000465408.1:p.Ala234=
ENST00000592915.1:n.70C>T (NAGS)
NM_153006.2:c.795C>T (NAGS)	NP_694551.1:p.Ala265=
XM_011524438.1:c.795C>T (NAGS)	XP_011522740.1:p.Ala265=
XM_011524439.1:c.297C>T (NAGS)	XP_011522741.1:p.Ala99=
XM_011525035.1:c.-463+17455G>A (PYY)	XP_011523337.1:n.-463+17455G>A
XM_011524439.2:c.297C>T (NAGS)	XP_011522741.1:p.Ala99=
NM_153006.3:c.795C>T (NAGS) MANE Select	NP_694551.1:p.Ala265=