Canonical Allele Identifier: CA500616384

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1348490954
• gnomAD v2: 17-42084998-G-T
• gnomAD v4: 17-44007630-G-T
• MyVariant Identifiers: chr17:g.42084998G>T (hg19) ; chr17:g.44007630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007630G>T , CM000679.2:g.44007630G>T	GRCh38
NC_000017.10:g.42084998G>T , CM000679.1:g.42084998G>T	GRCh37
NC_000017.9:g.39440524G>T	NCBI36
NG_008106.1:g.7967G>T
NG_023338.1:g.1840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1308G>T (NAGS) MANE Select	ENSP00000293404.2:p.Leu436=
ENST00000293404.7:c.1308G>T (NAGS)	ENSP00000293404.2:p.Leu436=
ENST00000589767.1:c.1239G>T (NAGS)	ENSP00000465408.1:p.Leu413=
ENST00000592915.1:n.1196G>T (NAGS)
NM_153006.2:c.1308G>T (NAGS)	NP_694551.1:p.Leu436=
XM_011524438.1:c.1268+136G>T (NAGS)	XP_011522740.1:n.1268+136G>T
XM_011524439.1:c.810G>T (NAGS)	XP_011522741.1:p.Leu270=
XM_011525035.1:c.-463+15942C>A (PYY)	XP_011523337.1:n.-463+15942C>A
XM_011524439.2:c.810G>T (NAGS)	XP_011522741.1:p.Leu270=
NM_153006.3:c.1308G>T (NAGS) MANE Select	NP_694551.1:p.Leu436=