Canonical Allele Identifier: CA2261182226

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006634A= , CM000679.2:g.44006634A= GRCh38
NC_000017.10:g.42084002A= , CM000679.1:g.42084002A= GRCh37
NC_000017.9:g.39439528A= NCBI36
NG_008106.1:g.6971A=
NG_023338.1:g.2836T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1021A= (NAGS) MANE Select ENSP00000293404.2:p.Ser341=
ENST00000293404.7:c.1021A= (NAGS) ENSP00000293404.2:p.Ser341=
ENST00000589767.1:c.928A= (NAGS) ENSP00000465408.1:p.Ser310=
ENST00000592915.1:n.296A= (NAGS)
NM_153006.2:c.1021A= (NAGS) NP_694551.1:p.Ser341=
XM_011524438.1:c.1021A= (NAGS) XP_011522740.1:p.Ser341=
XM_011524439.1:c.523A= (NAGS) XP_011522741.1:p.Ser175=
XM_011525035.1:c.-463+16938T= (PYY) XP_011523337.1:n.-463+16938T=
XM_011524439.2:c.523A= (NAGS) XP_011522741.1:p.Ser175=
NM_153006.3:c.1021A= (NAGS) MANE Select NP_694551.1:p.Ser341=