Canonical Allele Identifier: CA2261182252

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006675T= , CM000679.2:g.44006675T= GRCh38
NC_000017.10:g.42084043T= , CM000679.1:g.42084043T= GRCh37
NC_000017.9:g.39439569T= NCBI36
NG_008106.1:g.7012T=
NG_023338.1:g.2795A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1062T= (NAGS) MANE Select ENSP00000293404.2:p.Ala354=
ENST00000293404.7:c.1062T= (NAGS) ENSP00000293404.2:p.Ala354=
ENST00000589767.1:c.969T= (NAGS) ENSP00000465408.1:p.Ala323=
ENST00000592915.1:n.337T= (NAGS)
NM_153006.2:c.1062T= (NAGS) NP_694551.1:p.Ala354=
XM_011524438.1:c.1062T= (NAGS) XP_011522740.1:p.Ala354=
XM_011524439.1:c.564T= (NAGS) XP_011522741.1:p.Ala188=
XM_011525035.1:c.-463+16897A= (PYY) XP_011523337.1:n.-463+16897A=
XM_011524439.2:c.564T= (NAGS) XP_011522741.1:p.Ala188=
NM_153006.3:c.1062T= (NAGS) MANE Select NP_694551.1:p.Ala354=