Canonical Allele Identifier: CA399727866

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007706G>T , CM000679.2:g.44007706G>T GRCh38
NC_000017.10:g.42085074G>T , CM000679.1:g.42085074G>T GRCh37
NC_000017.9:g.39440600G>T NCBI36
NG_008106.1:g.8043G>T
NG_023338.1:g.1764C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1384G>T (NAGS) MANE Select ENSP00000293404.2:p.Glu462Ter
ENST00000293404.7:c.1384G>T (NAGS) ENSP00000293404.2:p.Glu462Ter
ENST00000589767.1:c.1315G>T (NAGS) ENSP00000465408.1:p.Glu439Ter
ENST00000592915.1:n.1272G>T (NAGS)
NM_153006.2:c.1384G>T (NAGS) NP_694551.1:p.Glu462Ter
XM_011524438.1:c.1268+212G>T (NAGS) XP_011522740.1:n.1268+212G>T
XM_011524439.1:c.886G>T (NAGS) XP_011522741.1:p.Glu296Ter
XM_011525035.1:c.-463+15866C>A (PYY) XP_011523337.1:n.-463+15866C>A
XM_011524439.2:c.886G>T (NAGS) XP_011522741.1:p.Glu296Ter
NM_153006.3:c.1384G>T (NAGS) MANE Select NP_694551.1:p.Glu462Ter