Canonical Allele Identifier: CA399728087

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007757A>T , CM000679.2:g.44007757A>T GRCh38
NC_000017.10:g.42085125A>T , CM000679.1:g.42085125A>T GRCh37
NC_000017.9:g.39440651A>T NCBI36
NG_008106.1:g.8094A>T
NG_023338.1:g.1713T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1435A>T (NAGS) MANE Select ENSP00000293404.2:p.Asn479Tyr
ENST00000293404.7:c.1435A>T (NAGS) ENSP00000293404.2:p.Asn479Tyr
ENST00000589767.1:c.1366A>T (NAGS) ENSP00000465408.1:p.Asn456Tyr
ENST00000592915.1:n.1323A>T (NAGS)
NM_153006.2:c.1435A>T (NAGS) NP_694551.1:p.Asn479Tyr
XM_011524438.1:c.1268+263A>T (NAGS) XP_011522740.1:n.1268+263A>T
XM_011524439.1:c.937A>T (NAGS) XP_011522741.1:p.Asn313Tyr
XM_011525035.1:c.-463+15815T>A (PYY) XP_011523337.1:n.-463+15815T>A
XM_011524439.2:c.937A>T (NAGS) XP_011522741.1:p.Asn313Tyr
NM_153006.3:c.1435A>T (NAGS) MANE Select NP_694551.1:p.Asn479Tyr