Canonical Allele Identifier: CA2261181975

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006139G= , CM000679.2:g.44006139G= GRCh38
NC_000017.10:g.42083507G= , CM000679.1:g.42083507G= GRCh37
NC_000017.9:g.39439033G= NCBI36
NG_008106.1:g.6476G=
NG_023338.1:g.3331C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.817G= (NAGS) MANE Select ENSP00000293404.2:p.Asp273=
ENST00000293404.7:c.817G= (NAGS) ENSP00000293404.2:p.Asp273=
ENST00000589767.1:c.724G= (NAGS) ENSP00000465408.1:p.Asp242=
ENST00000592915.1:n.92G= (NAGS)
NM_153006.2:c.817G= (NAGS) NP_694551.1:p.Asp273=
XM_011524438.1:c.817G= (NAGS) XP_011522740.1:p.Asp273=
XM_011524439.1:c.319G= (NAGS) XP_011522741.1:p.Asp107=
XM_011525035.1:c.-463+17433C= (PYY) XP_011523337.1:n.-463+17433C=
XM_011524439.2:c.319G= (NAGS) XP_011522741.1:p.Asp107=
NM_153006.3:c.817G= (NAGS) MANE Select NP_694551.1:p.Asp273=