Canonical Allele Identifier: CA2261182784

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007625G= , CM000679.2:g.44007625G= GRCh38
NC_000017.10:g.42084993G= , CM000679.1:g.42084993G= GRCh37
NC_000017.9:g.39440519G= NCBI36
NG_008106.1:g.7962G=
NG_023338.1:g.1845C=

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1303G= (NAGS) MANE Select ENSP00000293404.2:p.Val435=
ENST00000293404.7:c.1303G= (NAGS) ENSP00000293404.2:p.Val435=
ENST00000589767.1:c.1234G= (NAGS) ENSP00000465408.1:p.Val412=
ENST00000592915.1:n.1191G= (NAGS)
NM_153006.2:c.1303G= (NAGS) NP_694551.1:p.Val435=
XM_011524438.1:c.1268+131G= (NAGS) XP_011522740.1:n.1268+131G=
XM_011524439.1:c.805G= (NAGS) XP_011522741.1:p.Val269=
XM_011525035.1:c.-463+15947C= (PYY) XP_011523337.1:n.-463+15947C=
XM_011524439.2:c.805G= (NAGS) XP_011522741.1:p.Val269=
NM_153006.3:c.1303G= (NAGS) MANE Select NP_694551.1:p.Val435=