Canonical Allele Identifier: CA399727103

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42084817T>G (hg19) ; chr17:g.44007449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007449T>G , CM000679.2:g.44007449T>G	GRCh38
NC_000017.10:g.42084817T>G , CM000679.1:g.42084817T>G	GRCh37
NC_000017.9:g.39440343T>G	NCBI36
NG_008106.1:g.7786T>G
NG_023338.1:g.2021A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000293404.8:c.1223T>G (NAGS) MANE Select	ENSP00000293404.2:p.Leu408Arg
ENST00000293404.7:c.1223T>G (NAGS)	ENSP00000293404.2:p.Leu408Arg
ENST00000589767.1:c.1130T>G (NAGS)	ENSP00000465408.1:p.Leu377Arg
ENST00000592915.1:n.1111T>G (NAGS)
NM_153006.2:c.1223T>G (NAGS)	NP_694551.1:p.Leu408Arg
XM_011524438.1:c.1223T>G (NAGS)	XP_011522740.1:p.Leu408Arg
XM_011524439.1:c.725T>G (NAGS)	XP_011522741.1:p.Leu242Arg
XM_011525035.1:c.-463+16123A>C (PYY)	XP_011523337.1:n.-463+16123A>C
XM_011524439.2:c.725T>G (NAGS)	XP_011522741.1:p.Leu242Arg
NM_153006.3:c.1223T>G (NAGS) MANE Select	NP_694551.1:p.Leu408Arg