Canonical Allele Identifier: CA399727546

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007622C>T , CM000679.2:g.44007622C>T GRCh38
NC_000017.10:g.42084990C>T , CM000679.1:g.42084990C>T GRCh37
NC_000017.9:g.39440516C>T NCBI36
NG_008106.1:g.7959C>T
NG_023338.1:g.1848G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1300C>T (NAGS) MANE Select ENSP00000293404.2:p.Pro434Ser
ENST00000293404.7:c.1300C>T (NAGS) ENSP00000293404.2:p.Pro434Ser
ENST00000589767.1:c.1231C>T (NAGS) ENSP00000465408.1:p.Pro411Ser
ENST00000592915.1:n.1188C>T (NAGS)
NM_153006.2:c.1300C>T (NAGS) NP_694551.1:p.Pro434Ser
XM_011524438.1:c.1268+128C>T (NAGS) XP_011522740.1:n.1268+128C>T
XM_011524439.1:c.802C>T (NAGS) XP_011522741.1:p.Pro268Ser
XM_011525035.1:c.-463+15950G>A (PYY) XP_011523337.1:n.-463+15950G>A
XM_011524439.2:c.802C>T (NAGS) XP_011522741.1:p.Pro268Ser
NM_153006.3:c.1300C>T (NAGS) MANE Select NP_694551.1:p.Pro434Ser