Canonical Allele Identifier: CA399727832

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42085063A>T (hg19) ; chr17:g.44007695A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007695A>T , CM000679.2:g.44007695A>T	GRCh38
NC_000017.10:g.42085063A>T , CM000679.1:g.42085063A>T	GRCh37
NC_000017.9:g.39440589A>T	NCBI36
NG_008106.1:g.8032A>T
NG_023338.1:g.1775T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1373A>T (NAGS) MANE Select	ENSP00000293404.2:p.Gln458Leu
ENST00000293404.7:c.1373A>T (NAGS)	ENSP00000293404.2:p.Gln458Leu
ENST00000589767.1:c.1304A>T (NAGS)	ENSP00000465408.1:p.Gln435Leu
ENST00000592915.1:n.1261A>T (NAGS)
NM_153006.2:c.1373A>T (NAGS)	NP_694551.1:p.Gln458Leu
XM_011524438.1:c.1268+201A>T (NAGS)	XP_011522740.1:n.1268+201A>T
XM_011524439.1:c.875A>T (NAGS)	XP_011522741.1:p.Gln292Leu
XM_011525035.1:c.-463+15877T>A (PYY)	XP_011523337.1:n.-463+15877T>A
XM_011524439.2:c.875A>T (NAGS)	XP_011522741.1:p.Gln292Leu
NM_153006.3:c.1373A>T (NAGS) MANE Select	NP_694551.1:p.Gln458Leu