Canonical Allele Identifier: CA8595338

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1128403
• ClinVar RCV Id: RCV001461145
• dbSNP Id: rs764654474
• ExAC: 17:42084785 C / T
• gnomAD v2: 17-42084785-C-T
• gnomAD v3: 17-44007417-C-T
• gnomAD v4: 17-44007417-C-T
• MyVariant Identifiers: chr17:g.42084785C>T (hg19) ; chr17:g.44007417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007417C>T , CM000679.2:g.44007417C>T	GRCh38
NC_000017.10:g.42084785C>T , CM000679.1:g.42084785C>T	GRCh37
NC_000017.9:g.39440311C>T	NCBI36
NG_008106.1:g.7754C>T
NG_023338.1:g.2053G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1191C>T (NAGS) MANE Select	ENSP00000293404.2:p.Ala397=
ENST00000293404.7:c.1191C>T (NAGS)	ENSP00000293404.2:p.Ala397=
ENST00000589767.1:c.1098C>T (NAGS)	ENSP00000465408.1:p.Ala366=
ENST00000592915.1:n.1079C>T (NAGS)
NM_153006.2:c.1191C>T (NAGS)	NP_694551.1:p.Ala397=
XM_011524438.1:c.1191C>T (NAGS)	XP_011522740.1:p.Ala397=
XM_011524439.1:c.693C>T (NAGS)	XP_011522741.1:p.Ala231=
XM_011525035.1:c.-463+16155G>A (PYY)	XP_011523337.1:n.-463+16155G>A
XM_011524439.2:c.693C>T (NAGS)	XP_011522741.1:p.Ala231=
NM_153006.3:c.1191C>T (NAGS) MANE Select	NP_694551.1:p.Ala397=