Canonical Allele Identifier: CA399726290

Gene: NAGS PYY

Linked Data

• MyVariant Identifiers: chr17:g.42083987A>C (hg19) ; chr17:g.44006619A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006619A>C , CM000679.2:g.44006619A>C	GRCh38
NC_000017.10:g.42083987A>C , CM000679.1:g.42083987A>C	GRCh37
NC_000017.9:g.39439513A>C	NCBI36
NG_008106.1:g.6956A>C
NG_023338.1:g.2851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1006A>C (NAGS) MANE Select	ENSP00000293404.2:p.Ile336Leu
ENST00000293404.7:c.1006A>C (NAGS)	ENSP00000293404.2:p.Ile336Leu
ENST00000589767.1:c.913A>C (NAGS)	ENSP00000465408.1:p.Ile305Leu
ENST00000592915.1:n.281A>C (NAGS)
NM_153006.2:c.1006A>C (NAGS)	NP_694551.1:p.Ile336Leu
XM_011524438.1:c.1006A>C (NAGS)	XP_011522740.1:p.Ile336Leu
XM_011524439.1:c.508A>C (NAGS)	XP_011522741.1:p.Ile170Leu
XM_011525035.1:c.-463+16953T>G (PYY)	XP_011523337.1:n.-463+16953T>G
XM_011524439.2:c.508A>C (NAGS)	XP_011522741.1:p.Ile170Leu
NM_153006.3:c.1006A>C (NAGS) MANE Select	NP_694551.1:p.Ile336Leu