Canonical Allele Identifier: CA399725753

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006181C>T , CM000679.2:g.44006181C>T GRCh38
NC_000017.10:g.42083549C>T , CM000679.1:g.42083549C>T GRCh37
NC_000017.9:g.39439075C>T NCBI36
NG_008106.1:g.6518C>T
NG_023338.1:g.3289G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.859C>T (NAGS) MANE Select ENSP00000293404.2:p.Pro287Ser
ENST00000293404.7:c.859C>T (NAGS) ENSP00000293404.2:p.Pro287Ser
ENST00000589767.1:c.766C>T (NAGS) ENSP00000465408.1:p.Pro256Ser
ENST00000592915.1:n.134C>T (NAGS)
NM_153006.2:c.859C>T (NAGS) NP_694551.1:p.Pro287Ser
XM_011524438.1:c.859C>T (NAGS) XP_011522740.1:p.Pro287Ser
XM_011524439.1:c.361C>T (NAGS) XP_011522741.1:p.Pro121Ser
XM_011525035.1:c.-463+17391G>A (PYY) XP_011523337.1:n.-463+17391G>A
XM_011524439.2:c.361C>T (NAGS) XP_011522741.1:p.Pro121Ser
NM_153006.3:c.859C>T (NAGS) MANE Select NP_694551.1:p.Pro287Ser