Canonical Allele Identifier: CA2261182691

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007445T= , CM000679.2:g.44007445T= GRCh38
NC_000017.10:g.42084813T= , CM000679.1:g.42084813T= GRCh37
NC_000017.9:g.39440339T= NCBI36
NG_008106.1:g.7782T=
NG_023338.1:g.2025A=

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1219T= (NAGS) MANE Select ENSP00000293404.2:p.Tyr407=
ENST00000293404.7:c.1219T= (NAGS) ENSP00000293404.2:p.Tyr407=
ENST00000589767.1:c.1126T= (NAGS) ENSP00000465408.1:p.Tyr376=
ENST00000592915.1:n.1107T= (NAGS)
NM_153006.2:c.1219T= (NAGS) NP_694551.1:p.Tyr407=
XM_011524438.1:c.1219T= (NAGS) XP_011522740.1:p.Tyr407=
XM_011524439.1:c.721T= (NAGS) XP_011522741.1:p.Tyr241=
XM_011525035.1:c.-463+16127A= (PYY) XP_011523337.1:n.-463+16127A=
XM_011524439.2:c.721T= (NAGS) XP_011522741.1:p.Tyr241=
NM_153006.3:c.1219T= (NAGS) MANE Select NP_694551.1:p.Tyr407=