Canonical Allele Identifier: CA399726980

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2064679
• ClinVar RCV Id: RCV002928870
• dbSNP Id: rs1312599995
• gnomAD v2: 17-42084786-A-T
• gnomAD v4: 17-44007418-A-T
• MyVariant Identifiers: chr17:g.42084786A>T (hg19) ; chr17:g.44007418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007418A>T , CM000679.2:g.44007418A>T	GRCh38
NC_000017.10:g.42084786A>T , CM000679.1:g.42084786A>T	GRCh37
NC_000017.9:g.39440312A>T	NCBI36
NG_008106.1:g.7755A>T
NG_023338.1:g.2052T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1192A>T (NAGS) MANE Select	ENSP00000293404.2:p.Ser398Cys
ENST00000293404.7:c.1192A>T (NAGS)	ENSP00000293404.2:p.Ser398Cys
ENST00000589767.1:c.1099A>T (NAGS)	ENSP00000465408.1:p.Ser367Cys
ENST00000592915.1:n.1080A>T (NAGS)
NM_153006.2:c.1192A>T (NAGS)	NP_694551.1:p.Ser398Cys
XM_011524438.1:c.1192A>T (NAGS)	XP_011522740.1:p.Ser398Cys
XM_011524439.1:c.694A>T (NAGS)	XP_011522741.1:p.Ser232Cys
XM_011525035.1:c.-463+16154T>A (PYY)	XP_011523337.1:n.-463+16154T>A
XM_011524439.2:c.694A>T (NAGS)	XP_011522741.1:p.Ser232Cys
NM_153006.3:c.1192A>T (NAGS) MANE Select	NP_694551.1:p.Ser398Cys