Canonical Allele Identifier: CA399726402

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006651-C-A
• MyVariant Identifiers: chr17:g.42084019C>A (hg19) ; chr17:g.44006651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006651C>A , CM000679.2:g.44006651C>A	GRCh38
NC_000017.10:g.42084019C>A , CM000679.1:g.42084019C>A	GRCh37
NC_000017.9:g.39439545C>A	NCBI36
NG_008106.1:g.6988C>A
NG_023338.1:g.2819G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1038C>A (NAGS) MANE Select	ENSP00000293404.2:p.His346Gln
ENST00000293404.7:c.1038C>A (NAGS)	ENSP00000293404.2:p.His346Gln
ENST00000589767.1:c.945C>A (NAGS)	ENSP00000465408.1:p.His315Gln
ENST00000592915.1:n.313C>A (NAGS)
NM_153006.2:c.1038C>A (NAGS)	NP_694551.1:p.His346Gln
XM_011524438.1:c.1038C>A (NAGS)	XP_011522740.1:p.His346Gln
XM_011524439.1:c.540C>A (NAGS)	XP_011522741.1:p.His180Gln
XM_011525035.1:c.-463+16921G>T (PYY)	XP_011523337.1:n.-463+16921G>T
XM_011524439.2:c.540C>A (NAGS)	XP_011522741.1:p.His180Gln
NM_153006.3:c.1038C>A (NAGS) MANE Select	NP_694551.1:p.His346Gln