Canonical Allele Identifier: CA399726308

Gene: NAGS PYY

Linked Data

• dbSNP Id: rs1211162204
• gnomAD v2: 17-42083991-T-C
• gnomAD v4: 17-44006623-T-C
• MyVariant Identifiers: chr17:g.42083991T>C (hg19) ; chr17:g.44006623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44006623T>C , CM000679.2:g.44006623T>C	GRCh38
NC_000017.10:g.42083991T>C , CM000679.1:g.42083991T>C	GRCh37
NC_000017.9:g.39439517T>C	NCBI36
NG_008106.1:g.6960T>C
NG_023338.1:g.2847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1010T>C (NAGS) MANE Select	ENSP00000293404.2:p.Val337Ala
ENST00000293404.7:c.1010T>C (NAGS)	ENSP00000293404.2:p.Val337Ala
ENST00000589767.1:c.917T>C (NAGS)	ENSP00000465408.1:p.Val306Ala
ENST00000592915.1:n.285T>C (NAGS)
NM_153006.2:c.1010T>C (NAGS)	NP_694551.1:p.Val337Ala
XM_011524438.1:c.1010T>C (NAGS)	XP_011522740.1:p.Val337Ala
XM_011524439.1:c.512T>C (NAGS)	XP_011522741.1:p.Val171Ala
XM_011525035.1:c.-463+16949A>G (PYY)	XP_011523337.1:n.-463+16949A>G
XM_011524439.2:c.512T>C (NAGS)	XP_011522741.1:p.Val171Ala
NM_153006.3:c.1010T>C (NAGS) MANE Select	NP_694551.1:p.Val337Ala