Canonical Allele Identifier: CA399727818

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1366T>G (NAGS) MANE Select ENSP00000293404.2:p.Ser456Ala
ENST00000293404.7:c.1366T>G (NAGS) ENSP00000293404.2:p.Ser456Ala
ENST00000589767.1:c.1297T>G (NAGS) ENSP00000465408.1:p.Ser433Ala
ENST00000592915.1:n.1254T>G (NAGS)
NM_153006.2:c.1366T>G (NAGS) NP_694551.1:p.Ser456Ala
XM_011524438.1:c.1268+194T>G (NAGS) XP_011522740.1:n.1268+194T>G
XM_011524439.1:c.868T>G (NAGS) XP_011522741.1:p.Ser290Ala
XM_011525035.1:c.-463+15884A>C (PYY) XP_011523337.1:n.-463+15884A>C
XM_011524439.2:c.868T>G (NAGS) XP_011522741.1:p.Ser290Ala
NM_153006.3:c.1366T>G (NAGS) MANE Select NP_694551.1:p.Ser456Ala