Canonical Allele Identifier: CA399726773

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007361C>G , CM000679.2:g.44007361C>G GRCh38
NC_000017.10:g.42084729C>G , CM000679.1:g.42084729C>G GRCh37
NC_000017.9:g.39440255C>G NCBI36
NG_008106.1:g.7698C>G
NG_023338.1:g.2109G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1135C>G (NAGS) MANE Select ENSP00000293404.2:p.Arg379Gly
ENST00000293404.7:c.1135C>G (NAGS) ENSP00000293404.2:p.Arg379Gly
ENST00000589767.1:c.1042C>G (NAGS) ENSP00000465408.1:p.Arg348Gly
ENST00000592915.1:n.1023C>G (NAGS)
NM_153006.2:c.1135C>G (NAGS) NP_694551.1:p.Arg379Gly
XM_011524438.1:c.1135C>G (NAGS) XP_011522740.1:p.Arg379Gly
XM_011524439.1:c.637C>G (NAGS) XP_011522741.1:p.Arg213Gly
XM_011525035.1:c.-463+16211G>C (PYY) XP_011523337.1:n.-463+16211G>C
XM_011524439.2:c.637C>G (NAGS) XP_011522741.1:p.Arg213Gly
NM_153006.3:c.1135C>G (NAGS) MANE Select NP_694551.1:p.Arg379Gly