Canonical Allele Identifier: CA2261182208

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006595A= , CM000679.2:g.44006595A= GRCh38
NC_000017.10:g.42083963A= , CM000679.1:g.42083963A= GRCh37
NC_000017.9:g.39439489A= NCBI36
NG_008106.1:g.6932A=
NG_023338.1:g.2875T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.982A= (NAGS) MANE Select ENSP00000293404.2:p.Lys328=
ENST00000293404.7:c.982A= (NAGS) ENSP00000293404.2:p.Lys328=
ENST00000589767.1:c.889A= (NAGS) ENSP00000465408.1:p.Lys297=
ENST00000592915.1:n.257A= (NAGS)
NM_153006.2:c.982A= (NAGS) NP_694551.1:p.Lys328=
XM_011524438.1:c.982A= (NAGS) XP_011522740.1:p.Lys328=
XM_011524439.1:c.484A= (NAGS) XP_011522741.1:p.Lys162=
XM_011525035.1:c.-463+16977T= (PYY) XP_011523337.1:n.-463+16977T=
XM_011524439.2:c.484A= (NAGS) XP_011522741.1:p.Lys162=
NM_153006.3:c.982A= (NAGS) MANE Select NP_694551.1:p.Lys328=