Canonical Allele Identifier: CA399727770

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007677-A-G
• MyVariant Identifiers: chr17:g.42085045A>G (hg19) ; chr17:g.44007677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007677A>G , CM000679.2:g.44007677A>G	GRCh38
NC_000017.10:g.42085045A>G , CM000679.1:g.42085045A>G	GRCh37
NC_000017.9:g.39440571A>G	NCBI36
NG_008106.1:g.8014A>G
NG_023338.1:g.1793T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1355A>G (NAGS) MANE Select	ENSP00000293404.2:p.Gln452Arg
ENST00000293404.7:c.1355A>G (NAGS)	ENSP00000293404.2:p.Gln452Arg
ENST00000589767.1:c.1286A>G (NAGS)	ENSP00000465408.1:p.Gln429Arg
ENST00000592915.1:n.1243A>G (NAGS)
NM_153006.2:c.1355A>G (NAGS)	NP_694551.1:p.Gln452Arg
XM_011524438.1:c.1268+183A>G (NAGS)	XP_011522740.1:n.1268+183A>G
XM_011524439.1:c.857A>G (NAGS)	XP_011522741.1:p.Gln286Arg
XM_011525035.1:c.-463+15895T>C (PYY)	XP_011523337.1:n.-463+15895T>C
XM_011524439.2:c.857A>G (NAGS)	XP_011522741.1:p.Gln286Arg
NM_153006.3:c.1355A>G (NAGS) MANE Select	NP_694551.1:p.Gln452Arg