Canonical Allele Identifier: CA500616638

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007748-C-A
• MyVariant Identifiers: chr17:g.42085116C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007748C>A , CM000679.2:g.44007748C>A	GRCh38
NC_000017.10:g.42085116C>A , CM000679.1:g.42085116C>A	GRCh37
NC_000017.9:g.39440642C>A	NCBI36
NG_008106.1:g.8085C>A
NG_023338.1:g.1722G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1426C>A (NAGS) MANE Select	ENSP00000293404.2:p.Arg476=
ENST00000293404.7:c.1426C>A (NAGS)	ENSP00000293404.2:p.Arg476=
ENST00000589767.1:c.1357C>A (NAGS)	ENSP00000465408.1:p.Arg453=
ENST00000592915.1:n.1314C>A (NAGS)
NM_153006.2:c.1426C>A (NAGS)	NP_694551.1:p.Arg476=
XM_011524438.1:c.1268+254C>A (NAGS)	XP_011522740.1:n.1268+254C>A
XM_011524439.1:c.928C>A (NAGS)	XP_011522741.1:p.Arg310=
XM_011525035.1:c.-463+15824G>T (PYY)	XP_011523337.1:n.-463+15824G>T
XM_011524439.2:c.928C>A (NAGS)	XP_011522741.1:p.Arg310=
NM_153006.3:c.1426C>A (NAGS) MANE Select	NP_694551.1:p.Arg476=