Canonical Allele Identifier: CA500241047

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1129612
• ClinVar RCV Id: RCV001462825
• dbSNP Id: rs2049093957
• gnomAD v4: 17-44006531-C-A
• MyVariant Identifiers: chr17:g.42083899C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006531C>A , CM000679.2:g.44006531C>A	GRCh38
NC_000017.10:g.42083899C>A , CM000679.1:g.42083899C>A	GRCh37
NC_000017.9:g.39439425C>A	NCBI36
NG_008106.1:g.6868C>A
NG_023338.1:g.2939G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.918C>A (NAGS) MANE Select	ENSP00000293404.2:p.Val306=
ENST00000293404.7:c.918C>A (NAGS)	ENSP00000293404.2:p.Val306=
ENST00000589767.1:c.825C>A (NAGS)	ENSP00000465408.1:p.Val275=
ENST00000592915.1:n.193C>A (NAGS)
NM_153006.2:c.918C>A (NAGS)	NP_694551.1:p.Val306=
XM_011524438.1:c.918C>A (NAGS)	XP_011522740.1:p.Val306=
XM_011524439.1:c.420C>A (NAGS)	XP_011522741.1:p.Val140=
XM_011525035.1:c.-463+17041G>T (PYY)	XP_011523337.1:n.-463+17041G>T
XM_011524439.2:c.420C>A (NAGS)	XP_011522741.1:p.Val140=
NM_153006.3:c.918C>A (NAGS) MANE Select	NP_694551.1:p.Val306=