Canonical Allele Identifier: CA399728131

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007767A>G , CM000679.2:g.44007767A>G GRCh38
NC_000017.10:g.42085135A>G , CM000679.1:g.42085135A>G GRCh37
NC_000017.9:g.39440661A>G NCBI36
NG_008106.1:g.8104A>G
NG_023338.1:g.1703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1445A>G (NAGS) MANE Select ENSP00000293404.2:p.Asn482Ser
ENST00000293404.7:c.1445A>G (NAGS) ENSP00000293404.2:p.Asn482Ser
ENST00000589767.1:c.1376A>G (NAGS) ENSP00000465408.1:p.Asn459Ser
ENST00000592915.1:n.1333A>G (NAGS)
NM_153006.2:c.1445A>G (NAGS) NP_694551.1:p.Asn482Ser
XM_011524438.1:c.1268+273A>G (NAGS) XP_011522740.1:n.1268+273A>G
XM_011524439.1:c.947A>G (NAGS) XP_011522741.1:p.Asn316Ser
XM_011525035.1:c.-463+15805T>C (PYY) XP_011523337.1:n.-463+15805T>C
XM_011524439.2:c.947A>G (NAGS) XP_011522741.1:p.Asn316Ser
NM_153006.3:c.1445A>G (NAGS) MANE Select NP_694551.1:p.Asn482Ser