Canonical Allele Identifier: CA399725666

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006155C>T , CM000679.2:g.44006155C>T GRCh38
NC_000017.10:g.42083523C>T , CM000679.1:g.42083523C>T GRCh37
NC_000017.9:g.39439049C>T NCBI36
NG_008106.1:g.6492C>T
NG_023338.1:g.3315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.833C>T (NAGS) MANE Select ENSP00000293404.2:p.Thr278Ile
ENST00000293404.7:c.833C>T (NAGS) ENSP00000293404.2:p.Thr278Ile
ENST00000589767.1:c.740C>T (NAGS) ENSP00000465408.1:p.Thr247Ile
ENST00000592915.1:n.108C>T (NAGS)
NM_153006.2:c.833C>T (NAGS) NP_694551.1:p.Thr278Ile
XM_011524438.1:c.833C>T (NAGS) XP_011522740.1:p.Thr278Ile
XM_011524439.1:c.335C>T (NAGS) XP_011522741.1:p.Thr112Ile
XM_011525035.1:c.-463+17417G>A (PYY) XP_011523337.1:n.-463+17417G>A
XM_011524439.2:c.335C>T (NAGS) XP_011522741.1:p.Thr112Ile
NM_153006.3:c.833C>T (NAGS) MANE Select NP_694551.1:p.Thr278Ile