Canonical Allele Identifier: CA2261182206

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006592A= , CM000679.2:g.44006592A= GRCh38
NC_000017.10:g.42083960A= , CM000679.1:g.42083960A= GRCh37
NC_000017.9:g.39439486A= NCBI36
NG_008106.1:g.6929A=
NG_023338.1:g.2878T=

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.979A= (NAGS) MANE Select ENSP00000293404.2:p.Thr327=
ENST00000293404.7:c.979A= (NAGS) ENSP00000293404.2:p.Thr327=
ENST00000589767.1:c.886A= (NAGS) ENSP00000465408.1:p.Thr296=
ENST00000592915.1:n.254A= (NAGS)
NM_153006.2:c.979A= (NAGS) NP_694551.1:p.Thr327=
XM_011524438.1:c.979A= (NAGS) XP_011522740.1:p.Thr327=
XM_011524439.1:c.481A= (NAGS) XP_011522741.1:p.Thr161=
XM_011525035.1:c.-463+16980T= (PYY) XP_011523337.1:n.-463+16980T=
XM_011524439.2:c.481A= (NAGS) XP_011522741.1:p.Thr161=
NM_153006.3:c.979A= (NAGS) MANE Select NP_694551.1:p.Thr327=