Canonical Allele Identifier: CA399725732

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42083543C>G (hg19) ; chr17:g.44006175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006175C>G , CM000679.2:g.44006175C>G	GRCh38
NC_000017.10:g.42083543C>G , CM000679.1:g.42083543C>G	GRCh37
NC_000017.9:g.39439069C>G	NCBI36
NG_008106.1:g.6512C>G
NG_023338.1:g.3295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.853C>G (NAGS) MANE Select	ENSP00000293404.2:p.Leu285Val
ENST00000293404.7:c.853C>G (NAGS)	ENSP00000293404.2:p.Leu285Val
ENST00000589767.1:c.760C>G (NAGS)	ENSP00000465408.1:p.Leu254Val
ENST00000592915.1:n.128C>G (NAGS)
NM_153006.2:c.853C>G (NAGS)	NP_694551.1:p.Leu285Val
XM_011524438.1:c.853C>G (NAGS)	XP_011522740.1:p.Leu285Val
XM_011524439.1:c.355C>G (NAGS)	XP_011522741.1:p.Leu119Val
XM_011525035.1:c.-463+17397G>C (PYY)	XP_011523337.1:n.-463+17397G>C
XM_011524439.2:c.355C>G (NAGS)	XP_011522741.1:p.Leu119Val
NM_153006.3:c.853C>G (NAGS) MANE Select	NP_694551.1:p.Leu285Val