Canonical Allele Identifier: CA399726845

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007383-T-A
• MyVariant Identifiers: chr17:g.42084751T>A (hg19) ; chr17:g.44007383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007383T>A , CM000679.2:g.44007383T>A	GRCh38
NC_000017.10:g.42084751T>A , CM000679.1:g.42084751T>A	GRCh37
NC_000017.9:g.39440277T>A	NCBI36
NG_008106.1:g.7720T>A
NG_023338.1:g.2087A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1157T>A (NAGS) MANE Select	ENSP00000293404.2:p.Leu386Gln
ENST00000293404.7:c.1157T>A (NAGS)	ENSP00000293404.2:p.Leu386Gln
ENST00000589767.1:c.1064T>A (NAGS)	ENSP00000465408.1:p.Leu355Gln
ENST00000592915.1:n.1045T>A (NAGS)
NM_153006.2:c.1157T>A (NAGS)	NP_694551.1:p.Leu386Gln
XM_011524438.1:c.1157T>A (NAGS)	XP_011522740.1:p.Leu386Gln
XM_011524439.1:c.659T>A (NAGS)	XP_011522741.1:p.Leu220Gln
XM_011525035.1:c.-463+16189A>T (PYY)	XP_011523337.1:n.-463+16189A>T
XM_011524439.2:c.659T>A (NAGS)	XP_011522741.1:p.Leu220Gln
NM_153006.3:c.1157T>A (NAGS) MANE Select	NP_694551.1:p.Leu386Gln