Canonical Allele Identifier: CA399726962

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007413A>T , CM000679.2:g.44007413A>T GRCh38
NC_000017.10:g.42084781A>T , CM000679.1:g.42084781A>T GRCh37
NC_000017.9:g.39440307A>T NCBI36
NG_008106.1:g.7750A>T
NG_023338.1:g.2057T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1187A>T (NAGS) MANE Select ENSP00000293404.2:p.Asn396Ile
ENST00000293404.7:c.1187A>T (NAGS) ENSP00000293404.2:p.Asn396Ile
ENST00000589767.1:c.1094A>T (NAGS) ENSP00000465408.1:p.Asn365Ile
ENST00000592915.1:n.1075A>T (NAGS)
NM_153006.2:c.1187A>T (NAGS) NP_694551.1:p.Asn396Ile
XM_011524438.1:c.1187A>T (NAGS) XP_011522740.1:p.Asn396Ile
XM_011524439.1:c.689A>T (NAGS) XP_011522741.1:p.Asn230Ile
XM_011525035.1:c.-463+16159T>A (PYY) XP_011523337.1:n.-463+16159T>A
XM_011524439.2:c.689A>T (NAGS) XP_011522741.1:p.Asn230Ile
NM_153006.3:c.1187A>T (NAGS) MANE Select NP_694551.1:p.Asn396Ile