Canonical Allele Identifier: CA399726999

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007422T>G , CM000679.2:g.44007422T>G GRCh38
NC_000017.10:g.42084790T>G , CM000679.1:g.42084790T>G GRCh37
NC_000017.9:g.39440316T>G NCBI36
NG_008106.1:g.7759T>G
NG_023338.1:g.2048A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1196T>G (NAGS) MANE Select ENSP00000293404.2:p.Phe399Cys
ENST00000293404.7:c.1196T>G (NAGS) ENSP00000293404.2:p.Phe399Cys
ENST00000589767.1:c.1103T>G (NAGS) ENSP00000465408.1:p.Phe368Cys
ENST00000592915.1:n.1084T>G (NAGS)
NM_153006.2:c.1196T>G (NAGS) NP_694551.1:p.Phe399Cys
XM_011524438.1:c.1196T>G (NAGS) XP_011522740.1:p.Phe399Cys
XM_011524439.1:c.698T>G (NAGS) XP_011522741.1:p.Phe233Cys
XM_011525035.1:c.-463+16150A>C (PYY) XP_011523337.1:n.-463+16150A>C
XM_011524439.2:c.698T>G (NAGS) XP_011522741.1:p.Phe233Cys
NM_153006.3:c.1196T>G (NAGS) MANE Select NP_694551.1:p.Phe399Cys