Canonical Allele Identifier: CA8595374

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 323450
• ClinVar RCV Id: RCV000317713 ; RCV000438888 ; RCV003409508
• dbSNP Id: rs150004962
• ExAC: 17:42084992 C / T
• gnomAD v2: 17-42084992-C-T
• gnomAD v3: 17-44007624-C-T
• gnomAD v4: 17-44007624-C-T
• MyVariant Identifiers: chr17:g.42084992C>T (hg19) ; chr17:g.44007624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007624C>T , CM000679.2:g.44007624C>T	GRCh38
NC_000017.10:g.42084992C>T , CM000679.1:g.42084992C>T	GRCh37
NC_000017.9:g.39440518C>T	NCBI36
NG_008106.1:g.7961C>T
NG_023338.1:g.1846G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1302C>T (NAGS) MANE Select	ENSP00000293404.2:p.Pro434=
ENST00000293404.7:c.1302C>T (NAGS)	ENSP00000293404.2:p.Pro434=
ENST00000589767.1:c.1233C>T (NAGS)	ENSP00000465408.1:p.Pro411=
ENST00000592915.1:n.1190C>T (NAGS)
NM_153006.2:c.1302C>T (NAGS)	NP_694551.1:p.Pro434=
XM_011524438.1:c.1268+130C>T (NAGS)	XP_011522740.1:n.1268+130C>T
XM_011524439.1:c.804C>T (NAGS)	XP_011522741.1:p.Pro268=
XM_011525035.1:c.-463+15948G>A (PYY)	XP_011523337.1:n.-463+15948G>A
XM_011524439.2:c.804C>T (NAGS)	XP_011522741.1:p.Pro268=
NM_153006.3:c.1302C>T (NAGS) MANE Select	NP_694551.1:p.Pro434=