Canonical Allele Identifier: CA399725456

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006097T>G , CM000679.2:g.44006097T>G GRCh38
NC_000017.10:g.42083465T>G , CM000679.1:g.42083465T>G GRCh37
NC_000017.9:g.39438991T>G NCBI36
NG_008106.1:g.6434T>G
NG_023338.1:g.3373A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.775T>G (NAGS) MANE Select ENSP00000293404.2:p.Cys259Gly
ENST00000293404.7:c.775T>G (NAGS) ENSP00000293404.2:p.Cys259Gly
ENST00000589767.1:c.682T>G (NAGS) ENSP00000465408.1:p.Cys228Gly
ENST00000592915.1:n.50T>G (NAGS)
NM_153006.2:c.775T>G (NAGS) NP_694551.1:p.Cys259Gly
XM_011524438.1:c.775T>G (NAGS) XP_011522740.1:p.Cys259Gly
XM_011524439.1:c.277T>G (NAGS) XP_011522741.1:p.Cys93Gly
XM_011525035.1:c.-463+17475A>C (PYY) XP_011523337.1:n.-463+17475A>C
XM_011524439.2:c.277T>G (NAGS) XP_011522741.1:p.Cys93Gly
NM_153006.3:c.775T>G (NAGS) MANE Select NP_694551.1:p.Cys259Gly