Canonical Allele Identifier: CA399726071

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42083927C>G (hg19) ; chr17:g.44006559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006559C>G , CM000679.2:g.44006559C>G	GRCh38
NC_000017.10:g.42083927C>G , CM000679.1:g.42083927C>G	GRCh37
NC_000017.9:g.39439453C>G	NCBI36
NG_008106.1:g.6896C>G
NG_023338.1:g.2911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.946C>G (NAGS) MANE Select	ENSP00000293404.2:p.Leu316Val
ENST00000293404.7:c.946C>G (NAGS)	ENSP00000293404.2:p.Leu316Val
ENST00000589767.1:c.853C>G (NAGS)	ENSP00000465408.1:p.Leu285Val
ENST00000592915.1:n.221C>G (NAGS)
NM_153006.2:c.946C>G (NAGS)	NP_694551.1:p.Leu316Val
XM_011524438.1:c.946C>G (NAGS)	XP_011522740.1:p.Leu316Val
XM_011524439.1:c.448C>G (NAGS)	XP_011522741.1:p.Leu150Val
XM_011525035.1:c.-463+17013G>C (PYY)	XP_011523337.1:n.-463+17013G>C
XM_011524439.2:c.448C>G (NAGS)	XP_011522741.1:p.Leu150Val
NM_153006.3:c.946C>G (NAGS) MANE Select	NP_694551.1:p.Leu316Val