Canonical Allele Identifier: CA2261182224

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006629T= , CM000679.2:g.44006629T= GRCh38
NC_000017.10:g.42083997T= , CM000679.1:g.42083997T= GRCh37
NC_000017.9:g.39439523T= NCBI36
NG_008106.1:g.6966T=
NG_023338.1:g.2841A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1016T= (NAGS) MANE Select ENSP00000293404.2:p.Val339=
ENST00000293404.7:c.1016T= (NAGS) ENSP00000293404.2:p.Val339=
ENST00000589767.1:c.923T= (NAGS) ENSP00000465408.1:p.Val308=
ENST00000592915.1:n.291T= (NAGS)
NM_153006.2:c.1016T= (NAGS) NP_694551.1:p.Val339=
XM_011524438.1:c.1016T= (NAGS) XP_011522740.1:p.Val339=
XM_011524439.1:c.518T= (NAGS) XP_011522741.1:p.Val173=
XM_011525035.1:c.-463+16943A= (PYY) XP_011523337.1:n.-463+16943A=
XM_011524439.2:c.518T= (NAGS) XP_011522741.1:p.Val173=
NM_153006.3:c.1016T= (NAGS) MANE Select NP_694551.1:p.Val339=