Canonical Allele Identifier: CA399725441

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006089C>T , CM000679.2:g.44006089C>T GRCh38
NC_000017.10:g.42083457C>T , CM000679.1:g.42083457C>T GRCh37
NC_000017.9:g.39438983C>T NCBI36
NG_008106.1:g.6426C>T
NG_023338.1:g.3381G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.767C>T (NAGS) MANE Select ENSP00000293404.2:p.Pro256Leu
ENST00000293404.7:c.767C>T (NAGS) ENSP00000293404.2:p.Pro256Leu
ENST00000589767.1:c.674C>T (NAGS) ENSP00000465408.1:p.Pro225Leu
ENST00000592915.1:n.42C>T (NAGS)
NM_153006.2:c.767C>T (NAGS) NP_694551.1:p.Pro256Leu
XM_011524438.1:c.767C>T (NAGS) XP_011522740.1:p.Pro256Leu
XM_011524439.1:c.269C>T (NAGS) XP_011522741.1:p.Pro90Leu
XM_011525035.1:c.-463+17483G>A (PYY) XP_011523337.1:n.-463+17483G>A
XM_011524439.2:c.269C>T (NAGS) XP_011522741.1:p.Pro90Leu
NM_153006.3:c.767C>T (NAGS) MANE Select NP_694551.1:p.Pro256Leu