Canonical Allele Identifier: CA399725966

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 2676923
• ClinVar RCV Id: RCV003463090
• MyVariant Identifiers: chr17:g.42083607T>G (hg19) ; chr17:g.44006239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006239T>G , CM000679.2:g.44006239T>G	GRCh38
NC_000017.10:g.42083607T>G , CM000679.1:g.42083607T>G	GRCh37
NC_000017.9:g.39439133T>G	NCBI36
NG_008106.1:g.6576T>G
NG_023338.1:g.3231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.915+2T>G (NAGS) MANE Select	ENSP00000293404.2:n.915+2T>G
ENST00000293404.7:c.915+2T>G (NAGS)	ENSP00000293404.2:n.915+2T>G
ENST00000589767.1:c.822+2T>G (NAGS)	ENSP00000465408.1:n.822+2T>G
ENST00000592915.1:n.190+2T>G (NAGS)
NM_153006.2:c.915+2T>G (NAGS)	NP_694551.1:n.915+2T>G
XM_011524438.1:c.915+2T>G (NAGS)	XP_011522740.1:n.915+2T>G
XM_011524439.1:c.417+2T>G (NAGS)	XP_011522741.1:n.417+2T>G
XM_011525035.1:c.-463+17333A>C (PYY)	XP_011523337.1:n.-463+17333A>C
XM_011524439.2:c.417+2T>G (NAGS)	XP_011522741.1:n.417+2T>G
NM_153006.3:c.915+2T>G (NAGS) MANE Select	NP_694551.1:n.915+2T>G