Canonical Allele Identifier: CA399725521

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2162647
• ClinVar RCV Id: RCV003070350
• dbSNP Id: rs902939862
• gnomAD v3: 17-44006118-G-T
• gnomAD v4: 17-44006118-G-T
• MyVariant Identifiers: chr17:g.42083486G>T (hg19) ; chr17:g.44006118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006118G>T , CM000679.2:g.44006118G>T	GRCh38
NC_000017.10:g.42083486G>T , CM000679.1:g.42083486G>T	GRCh37
NC_000017.9:g.39439012G>T	NCBI36
NG_008106.1:g.6455G>T
NG_023338.1:g.3352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.796G>T (NAGS) MANE Select	ENSP00000293404.2:p.Ala266Ser
ENST00000293404.7:c.796G>T (NAGS)	ENSP00000293404.2:p.Ala266Ser
ENST00000589767.1:c.703G>T (NAGS)	ENSP00000465408.1:p.Ala235Ser
ENST00000592915.1:n.71G>T (NAGS)
NM_153006.2:c.796G>T (NAGS)	NP_694551.1:p.Ala266Ser
XM_011524438.1:c.796G>T (NAGS)	XP_011522740.1:p.Ala266Ser
XM_011524439.1:c.298G>T (NAGS)	XP_011522741.1:p.Ala100Ser
XM_011525035.1:c.-463+17454C>A (PYY)	XP_011523337.1:n.-463+17454C>A
XM_011524439.2:c.298G>T (NAGS)	XP_011522741.1:p.Ala100Ser
NM_153006.3:c.796G>T (NAGS) MANE Select	NP_694551.1:p.Ala266Ser