Canonical Allele Identifier: CA399725731

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006175-C-A
• MyVariant Identifiers: chr17:g.42083543C>A (hg19) ; chr17:g.44006175C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.853C>A (NAGS) MANE Select	ENSP00000293404.2:p.Leu285Met
ENST00000293404.7:c.853C>A (NAGS)	ENSP00000293404.2:p.Leu285Met
ENST00000589767.1:c.760C>A (NAGS)	ENSP00000465408.1:p.Leu254Met
ENST00000592915.1:n.128C>A (NAGS)
NM_153006.2:c.853C>A (NAGS)	NP_694551.1:p.Leu285Met
XM_011524438.1:c.853C>A (NAGS)	XP_011522740.1:p.Leu285Met
XM_011524439.1:c.355C>A (NAGS)	XP_011522741.1:p.Leu119Met
XM_011525035.1:c.-463+17397G>T (PYY)	XP_011523337.1:n.-463+17397G>T
XM_011524439.2:c.355C>A (NAGS)	XP_011522741.1:p.Leu119Met
NM_153006.3:c.853C>A (NAGS) MANE Select	NP_694551.1:p.Leu285Met