Canonical Allele Identifier: CA399725469

Gene: NAGS PYY

Linked Data

• gnomAD v4: 17-44006101-C-T
• MyVariant Identifiers: chr17:g.42083469C>T (hg19) ; chr17:g.44006101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006101C>T , CM000679.2:g.44006101C>T	GRCh38
NC_000017.10:g.42083469C>T , CM000679.1:g.42083469C>T	GRCh37
NC_000017.9:g.39438995C>T	NCBI36
NG_008106.1:g.6438C>T
NG_023338.1:g.3369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.779C>T (NAGS) MANE Select	ENSP00000293404.2:p.Pro260Leu
ENST00000293404.7:c.779C>T (NAGS)	ENSP00000293404.2:p.Pro260Leu
ENST00000589767.1:c.686C>T (NAGS)	ENSP00000465408.1:p.Pro229Leu
ENST00000592915.1:n.54C>T (NAGS)
NM_153006.2:c.779C>T (NAGS)	NP_694551.1:p.Pro260Leu
XM_011524438.1:c.779C>T (NAGS)	XP_011522740.1:p.Pro260Leu
XM_011524439.1:c.281C>T (NAGS)	XP_011522741.1:p.Pro94Leu
XM_011525035.1:c.-463+17471G>A (PYY)	XP_011523337.1:n.-463+17471G>A
XM_011524439.2:c.281C>T (NAGS)	XP_011522741.1:p.Pro94Leu
NM_153006.3:c.779C>T (NAGS) MANE Select	NP_694551.1:p.Pro260Leu