Canonical Allele Identifier: CA399727816

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007688T>A , CM000679.2:g.44007688T>A GRCh38
NC_000017.10:g.42085056T>A , CM000679.1:g.42085056T>A GRCh37
NC_000017.9:g.39440582T>A NCBI36
NG_008106.1:g.8025T>A
NG_023338.1:g.1782A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1366T>A (NAGS) MANE Select ENSP00000293404.2:p.Ser456Thr
ENST00000293404.7:c.1366T>A (NAGS) ENSP00000293404.2:p.Ser456Thr
ENST00000589767.1:c.1297T>A (NAGS) ENSP00000465408.1:p.Ser433Thr
ENST00000592915.1:n.1254T>A (NAGS)
NM_153006.2:c.1366T>A (NAGS) NP_694551.1:p.Ser456Thr
XM_011524438.1:c.1268+194T>A (NAGS) XP_011522740.1:n.1268+194T>A
XM_011524439.1:c.868T>A (NAGS) XP_011522741.1:p.Ser290Thr
XM_011525035.1:c.-463+15884A>T (PYY) XP_011523337.1:n.-463+15884A>T
XM_011524439.2:c.868T>A (NAGS) XP_011522741.1:p.Ser290Thr
NM_153006.3:c.1366T>A (NAGS) MANE Select NP_694551.1:p.Ser456Thr