Canonical Allele Identifier: CA399727890

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2014163
• ClinVar RCV Id: RCV002861356
• MyVariant Identifiers: chr17:g.42085079C>G (hg19) ; chr17:g.44007711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007711C>G , CM000679.2:g.44007711C>G	GRCh38
NC_000017.10:g.42085079C>G , CM000679.1:g.42085079C>G	GRCh37
NC_000017.9:g.39440605C>G	NCBI36
NG_008106.1:g.8048C>G
NG_023338.1:g.1759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1389C>G (NAGS) MANE Select	ENSP00000293404.2:p.Cys463Trp
ENST00000293404.7:c.1389C>G (NAGS)	ENSP00000293404.2:p.Cys463Trp
ENST00000589767.1:c.1320C>G (NAGS)	ENSP00000465408.1:p.Cys440Trp
ENST00000592915.1:n.1277C>G (NAGS)
NM_153006.2:c.1389C>G (NAGS)	NP_694551.1:p.Cys463Trp
XM_011524438.1:c.1268+217C>G (NAGS)	XP_011522740.1:n.1268+217C>G
XM_011524439.1:c.891C>G (NAGS)	XP_011522741.1:p.Cys297Trp
XM_011525035.1:c.-463+15861G>C (PYY)	XP_011523337.1:n.-463+15861G>C
XM_011524439.2:c.891C>G (NAGS)	XP_011522741.1:p.Cys297Trp
NM_153006.3:c.1389C>G (NAGS) MANE Select	NP_694551.1:p.Cys463Trp