Canonical Allele Identifier: CA399726079

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2069878
• ClinVar RCV Id: RCV002966705
• dbSNP Id: rs2049094572
• gnomAD v3: 17-44006562-G-A
• gnomAD v4: 17-44006562-G-A
• MyVariant Identifiers: chr17:g.42083930G>A (hg19) ; chr17:g.44006562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006562G>A , CM000679.2:g.44006562G>A	GRCh38
NC_000017.10:g.42083930G>A , CM000679.1:g.42083930G>A	GRCh37
NC_000017.9:g.39439456G>A	NCBI36
NG_008106.1:g.6899G>A
NG_023338.1:g.2908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.949G>A (NAGS) MANE Select	ENSP00000293404.2:p.Asp317Asn
ENST00000293404.7:c.949G>A (NAGS)	ENSP00000293404.2:p.Asp317Asn
ENST00000589767.1:c.856G>A (NAGS)	ENSP00000465408.1:p.Asp286Asn
ENST00000592915.1:n.224G>A (NAGS)
NM_153006.2:c.949G>A (NAGS)	NP_694551.1:p.Asp317Asn
XM_011524438.1:c.949G>A (NAGS)	XP_011522740.1:p.Asp317Asn
XM_011524439.1:c.451G>A (NAGS)	XP_011522741.1:p.Asp151Asn
XM_011525035.1:c.-463+17010C>T (PYY)	XP_011523337.1:n.-463+17010C>T
XM_011524439.2:c.451G>A (NAGS)	XP_011522741.1:p.Asp151Asn
NM_153006.3:c.949G>A (NAGS) MANE Select	NP_694551.1:p.Asp317Asn