Canonical Allele Identifier: CA2261181979

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006148G= , CM000679.2:g.44006148G= GRCh38
NC_000017.10:g.42083516G= , CM000679.1:g.42083516G= GRCh37
NC_000017.9:g.39439042G= NCBI36
NG_008106.1:g.6485G=
NG_023338.1:g.3322C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.826G= (NAGS) MANE Select ENSP00000293404.2:p.Glu276=
ENST00000293404.7:c.826G= (NAGS) ENSP00000293404.2:p.Glu276=
ENST00000589767.1:c.733G= (NAGS) ENSP00000465408.1:p.Glu245=
ENST00000592915.1:n.101G= (NAGS)
NM_153006.2:c.826G= (NAGS) NP_694551.1:p.Glu276=
XM_011524438.1:c.826G= (NAGS) XP_011522740.1:p.Glu276=
XM_011524439.1:c.328G= (NAGS) XP_011522741.1:p.Glu110=
XM_011525035.1:c.-463+17424C= (PYY) XP_011523337.1:n.-463+17424C=
XM_011524439.2:c.328G= (NAGS) XP_011522741.1:p.Glu110=
NM_153006.3:c.826G= (NAGS) MANE Select NP_694551.1:p.Glu276=