Canonical Allele Identifier: CA2261182255

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006682C= , CM000679.2:g.44006682C= GRCh38
NC_000017.10:g.42084050C= , CM000679.1:g.42084050C= GRCh37
NC_000017.9:g.39439576C= NCBI36
NG_008106.1:g.7019C=
NG_023338.1:g.2788G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1069C= (NAGS) MANE Select ENSP00000293404.2:p.Leu357=
ENST00000293404.7:c.1069C= (NAGS) ENSP00000293404.2:p.Leu357=
ENST00000589767.1:c.976C= (NAGS) ENSP00000465408.1:p.Leu326=
ENST00000592915.1:n.344C= (NAGS)
NM_153006.2:c.1069C= (NAGS) NP_694551.1:p.Leu357=
XM_011524438.1:c.1069C= (NAGS) XP_011522740.1:p.Leu357=
XM_011524439.1:c.571C= (NAGS) XP_011522741.1:p.Leu191=
XM_011525035.1:c.-463+16890G= (PYY) XP_011523337.1:n.-463+16890G=
XM_011524439.2:c.571C= (NAGS) XP_011522741.1:p.Leu191=
NM_153006.3:c.1069C= (NAGS) MANE Select NP_694551.1:p.Leu357=