Canonical Allele Identifier: CA399726165

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006583-T-G
• MyVariant Identifiers: chr17:g.42083951T>G (hg19) ; chr17:g.44006583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006583T>G , CM000679.2:g.44006583T>G	GRCh38
NC_000017.10:g.42083951T>G , CM000679.1:g.42083951T>G	GRCh37
NC_000017.9:g.39439477T>G	NCBI36
NG_008106.1:g.6920T>G
NG_023338.1:g.2887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.970T>G (NAGS) MANE Select	ENSP00000293404.2:p.Trp324Gly
ENST00000293404.7:c.970T>G (NAGS)	ENSP00000293404.2:p.Trp324Gly
ENST00000589767.1:c.877T>G (NAGS)	ENSP00000465408.1:p.Trp293Gly
ENST00000592915.1:n.245T>G (NAGS)
NM_153006.2:c.970T>G (NAGS)	NP_694551.1:p.Trp324Gly
XM_011524438.1:c.970T>G (NAGS)	XP_011522740.1:p.Trp324Gly
XM_011524439.1:c.472T>G (NAGS)	XP_011522741.1:p.Trp158Gly
XM_011525035.1:c.-463+16989A>C (PYY)	XP_011523337.1:n.-463+16989A>C
XM_011524439.2:c.472T>G (NAGS)	XP_011522741.1:p.Trp158Gly
NM_153006.3:c.970T>G (NAGS) MANE Select	NP_694551.1:p.Trp324Gly