Canonical Allele Identifier: CA399727904

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007715C>G , CM000679.2:g.44007715C>G GRCh38
NC_000017.10:g.42085083C>G , CM000679.1:g.42085083C>G GRCh37
NC_000017.9:g.39440609C>G NCBI36
NG_008106.1:g.8052C>G
NG_023338.1:g.1755G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1393C>G (NAGS) MANE Select ENSP00000293404.2:p.Arg465Gly
ENST00000293404.7:c.1393C>G (NAGS) ENSP00000293404.2:p.Arg465Gly
ENST00000589767.1:c.1324C>G (NAGS) ENSP00000465408.1:p.Arg442Gly
ENST00000592915.1:n.1281C>G (NAGS)
NM_153006.2:c.1393C>G (NAGS) NP_694551.1:p.Arg465Gly
XM_011524438.1:c.1268+221C>G (NAGS) XP_011522740.1:n.1268+221C>G
XM_011524439.1:c.895C>G (NAGS) XP_011522741.1:p.Arg299Gly
XM_011525035.1:c.-463+15857G>C (PYY) XP_011523337.1:n.-463+15857G>C
XM_011524439.2:c.895C>G (NAGS) XP_011522741.1:p.Arg299Gly
NM_153006.3:c.1393C>G (NAGS) MANE Select NP_694551.1:p.Arg465Gly