Canonical Allele Identifier: CA500241085

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2717558
• ClinVar RCV Id: RCV003499191
• gnomAD v4: 17-44006570-G-A
• MyVariant Identifiers: chr17:g.42083938G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006570G>A , CM000679.2:g.44006570G>A	GRCh38
NC_000017.10:g.42083938G>A , CM000679.1:g.42083938G>A	GRCh37
NC_000017.9:g.39439464G>A	NCBI36
NG_008106.1:g.6907G>A
NG_023338.1:g.2900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.957G>A (NAGS) MANE Select	ENSP00000293404.2:p.Val319=
ENST00000293404.7:c.957G>A (NAGS)	ENSP00000293404.2:p.Val319=
ENST00000589767.1:c.864G>A (NAGS)	ENSP00000465408.1:p.Val288=
ENST00000592915.1:n.232G>A (NAGS)
NM_153006.2:c.957G>A (NAGS)	NP_694551.1:p.Val319=
XM_011524438.1:c.957G>A (NAGS)	XP_011522740.1:p.Val319=
XM_011524439.1:c.459G>A (NAGS)	XP_011522741.1:p.Val153=
XM_011525035.1:c.-463+17002C>T (PYY)	XP_011523337.1:n.-463+17002C>T
XM_011524439.2:c.459G>A (NAGS)	XP_011522741.1:p.Val153=
NM_153006.3:c.957G>A (NAGS) MANE Select	NP_694551.1:p.Val319=