Canonical Allele Identifier: CA500616516

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44007693-C-A
• MyVariant Identifiers: chr17:g.42085061C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007693C>A , CM000679.2:g.44007693C>A	GRCh38
NC_000017.10:g.42085061C>A , CM000679.1:g.42085061C>A	GRCh37
NC_000017.9:g.39440587C>A	NCBI36
NG_008106.1:g.8030C>A
NG_023338.1:g.1777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1371C>A (NAGS) MANE Select	ENSP00000293404.2:p.Gly457=
ENST00000293404.7:c.1371C>A (NAGS)	ENSP00000293404.2:p.Gly457=
ENST00000589767.1:c.1302C>A (NAGS)	ENSP00000465408.1:p.Gly434=
ENST00000592915.1:n.1259C>A (NAGS)
NM_153006.2:c.1371C>A (NAGS)	NP_694551.1:p.Gly457=
XM_011524438.1:c.1268+199C>A (NAGS)	XP_011522740.1:n.1268+199C>A
XM_011524439.1:c.873C>A (NAGS)	XP_011522741.1:p.Gly291=
XM_011525035.1:c.-463+15879G>T (PYY)	XP_011523337.1:n.-463+15879G>T
XM_011524439.2:c.873C>A (NAGS)	XP_011522741.1:p.Gly291=
NM_153006.3:c.1371C>A (NAGS) MANE Select	NP_694551.1:p.Gly457=