Canonical Allele Identifier: CA399728003

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007737T>G , CM000679.2:g.44007737T>G GRCh38
NC_000017.10:g.42085105T>G , CM000679.1:g.42085105T>G GRCh37
NC_000017.9:g.39440631T>G NCBI36
NG_008106.1:g.8074T>G
NG_023338.1:g.1733A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1415T>G (NAGS) MANE Select ENSP00000293404.2:p.Phe472Cys
ENST00000293404.7:c.1415T>G (NAGS) ENSP00000293404.2:p.Phe472Cys
ENST00000589767.1:c.1346T>G (NAGS) ENSP00000465408.1:p.Phe449Cys
ENST00000592915.1:n.1303T>G (NAGS)
NM_153006.2:c.1415T>G (NAGS) NP_694551.1:p.Phe472Cys
XM_011524438.1:c.1268+243T>G (NAGS) XP_011522740.1:n.1268+243T>G
XM_011524439.1:c.917T>G (NAGS) XP_011522741.1:p.Phe306Cys
XM_011525035.1:c.-463+15835A>C (PYY) XP_011523337.1:n.-463+15835A>C
XM_011524439.2:c.917T>G (NAGS) XP_011522741.1:p.Phe306Cys
NM_153006.3:c.1415T>G (NAGS) MANE Select NP_694551.1:p.Phe472Cys