Canonical Allele Identifier: CA399727798

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007683-A-G
• MyVariant Identifiers: chr17:g.42085051A>G (hg19) ; chr17:g.44007683A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007683A>G , CM000679.2:g.44007683A>G	GRCh38
NC_000017.10:g.42085051A>G , CM000679.1:g.42085051A>G	GRCh37
NC_000017.9:g.39440577A>G	NCBI36
NG_008106.1:g.8020A>G
NG_023338.1:g.1787T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1361A>G (NAGS) MANE Select	ENSP00000293404.2:p.Gln454Arg
ENST00000293404.7:c.1361A>G (NAGS)	ENSP00000293404.2:p.Gln454Arg
ENST00000589767.1:c.1292A>G (NAGS)	ENSP00000465408.1:p.Gln431Arg
ENST00000592915.1:n.1249A>G (NAGS)
NM_153006.2:c.1361A>G (NAGS)	NP_694551.1:p.Gln454Arg
XM_011524438.1:c.1268+189A>G (NAGS)	XP_011522740.1:n.1268+189A>G
XM_011524439.1:c.863A>G (NAGS)	XP_011522741.1:p.Gln288Arg
XM_011525035.1:c.-463+15889T>C (PYY)	XP_011523337.1:n.-463+15889T>C
XM_011524439.2:c.863A>G (NAGS)	XP_011522741.1:p.Gln288Arg
NM_153006.3:c.1361A>G (NAGS) MANE Select	NP_694551.1:p.Gln454Arg