Canonical Allele Identifier: CA399727165

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007472C>G , CM000679.2:g.44007472C>G GRCh38
NC_000017.10:g.42084840C>G , CM000679.1:g.42084840C>G GRCh37
NC_000017.9:g.39440366C>G NCBI36
NG_008106.1:g.7809C>G
NG_023338.1:g.1998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1246C>G (NAGS) MANE Select ENSP00000293404.2:p.His416Asp
ENST00000293404.7:c.1246C>G (NAGS) ENSP00000293404.2:p.His416Asp
ENST00000589767.1:c.1153C>G (NAGS) ENSP00000465408.1:p.His385Asp
ENST00000592915.1:n.1134C>G (NAGS)
NM_153006.2:c.1246C>G (NAGS) NP_694551.1:p.His416Asp
XM_011524438.1:c.1246C>G (NAGS) XP_011522740.1:p.His416Asp
XM_011524439.1:c.748C>G (NAGS) XP_011522741.1:p.His250Asp
XM_011525035.1:c.-463+16100G>C (PYY) XP_011523337.1:n.-463+16100G>C
XM_011524439.2:c.748C>G (NAGS) XP_011522741.1:p.His250Asp
NM_153006.3:c.1246C>G (NAGS) MANE Select NP_694551.1:p.His416Asp