Canonical Allele Identifier: CA399726057

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006554C>A , CM000679.2:g.44006554C>A GRCh38
NC_000017.10:g.42083922C>A , CM000679.1:g.42083922C>A GRCh37
NC_000017.9:g.39439448C>A NCBI36
NG_008106.1:g.6891C>A
NG_023338.1:g.2916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.941C>A (NAGS) MANE Select ENSP00000293404.2:p.Ala314Asp
ENST00000293404.7:c.941C>A (NAGS) ENSP00000293404.2:p.Ala314Asp
ENST00000589767.1:c.848C>A (NAGS) ENSP00000465408.1:p.Ala283Asp
ENST00000592915.1:n.216C>A (NAGS)
NM_153006.2:c.941C>A (NAGS) NP_694551.1:p.Ala314Asp
XM_011524438.1:c.941C>A (NAGS) XP_011522740.1:p.Ala314Asp
XM_011524439.1:c.443C>A (NAGS) XP_011522741.1:p.Ala148Asp
XM_011525035.1:c.-463+17018G>T (PYY) XP_011523337.1:n.-463+17018G>T
XM_011524439.2:c.443C>A (NAGS) XP_011522741.1:p.Ala148Asp
NM_153006.3:c.941C>A (NAGS) MANE Select NP_694551.1:p.Ala314Asp