Canonical Allele Identifier: CA2261182831

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007712C= , CM000679.2:g.44007712C= GRCh38
NC_000017.10:g.42085080C= , CM000679.1:g.42085080C= GRCh37
NC_000017.9:g.39440606C= NCBI36
NG_008106.1:g.8049C=
NG_023338.1:g.1758G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1390C= (NAGS) MANE Select ENSP00000293404.2:p.Leu464=
ENST00000293404.7:c.1390C= (NAGS) ENSP00000293404.2:p.Leu464=
ENST00000589767.1:c.1321C= (NAGS) ENSP00000465408.1:p.Leu441=
ENST00000592915.1:n.1278C= (NAGS)
NM_153006.2:c.1390C= (NAGS) NP_694551.1:p.Leu464=
XM_011524438.1:c.1268+218C= (NAGS) XP_011522740.1:n.1268+218C=
XM_011524439.1:c.892C= (NAGS) XP_011522741.1:p.Leu298=
XM_011525035.1:c.-463+15860G= (PYY) XP_011523337.1:n.-463+15860G=
XM_011524439.2:c.892C= (NAGS) XP_011522741.1:p.Leu298=
NM_153006.3:c.1390C= (NAGS) MANE Select NP_694551.1:p.Leu464=