Canonical Allele Identifier: CA399727846

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42085069T>A (hg19) ; chr17:g.44007701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007701T>A , CM000679.2:g.44007701T>A	GRCh38
NC_000017.10:g.42085069T>A , CM000679.1:g.42085069T>A	GRCh37
NC_000017.9:g.39440595T>A	NCBI36
NG_008106.1:g.8038T>A
NG_023338.1:g.1769A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1379T>A (NAGS) MANE Select	ENSP00000293404.2:p.Leu460Gln
ENST00000293404.7:c.1379T>A (NAGS)	ENSP00000293404.2:p.Leu460Gln
ENST00000589767.1:c.1310T>A (NAGS)	ENSP00000465408.1:p.Leu437Gln
ENST00000592915.1:n.1267T>A (NAGS)
NM_153006.2:c.1379T>A (NAGS)	NP_694551.1:p.Leu460Gln
XM_011524438.1:c.1268+207T>A (NAGS)	XP_011522740.1:n.1268+207T>A
XM_011524439.1:c.881T>A (NAGS)	XP_011522741.1:p.Leu294Gln
XM_011525035.1:c.-463+15871A>T (PYY)	XP_011523337.1:n.-463+15871A>T
XM_011524439.2:c.881T>A (NAGS)	XP_011522741.1:p.Leu294Gln
NM_153006.3:c.1379T>A (NAGS) MANE Select	NP_694551.1:p.Leu460Gln