Canonical Allele Identifier: CA2261182201

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006585G= , CM000679.2:g.44006585G= GRCh38
NC_000017.10:g.42083953G= , CM000679.1:g.42083953G= GRCh37
NC_000017.9:g.39439479G= NCBI36
NG_008106.1:g.6922G=
NG_023338.1:g.2885C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.972G= (NAGS) MANE Select ENSP00000293404.2:p.Trp324=
ENST00000293404.7:c.972G= (NAGS) ENSP00000293404.2:p.Trp324=
ENST00000589767.1:c.879G= (NAGS) ENSP00000465408.1:p.Trp293=
ENST00000592915.1:n.247G= (NAGS)
NM_153006.2:c.972G= (NAGS) NP_694551.1:p.Trp324=
XM_011524438.1:c.972G= (NAGS) XP_011522740.1:p.Trp324=
XM_011524439.1:c.474G= (NAGS) XP_011522741.1:p.Trp158=
XM_011525035.1:c.-463+16987C= (PYY) XP_011523337.1:n.-463+16987C=
XM_011524439.2:c.474G= (NAGS) XP_011522741.1:p.Trp158=
NM_153006.3:c.972G= (NAGS) MANE Select NP_694551.1:p.Trp324=