Canonical Allele Identifier: CA399727819

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007689C>A , CM000679.2:g.44007689C>A GRCh38
NC_000017.10:g.42085057C>A , CM000679.1:g.42085057C>A GRCh37
NC_000017.9:g.39440583C>A NCBI36
NG_008106.1:g.8026C>A
NG_023338.1:g.1781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1367C>A (NAGS) MANE Select ENSP00000293404.2:p.Ser456Tyr
ENST00000293404.7:c.1367C>A (NAGS) ENSP00000293404.2:p.Ser456Tyr
ENST00000589767.1:c.1298C>A (NAGS) ENSP00000465408.1:p.Ser433Tyr
ENST00000592915.1:n.1255C>A (NAGS)
NM_153006.2:c.1367C>A (NAGS) NP_694551.1:p.Ser456Tyr
XM_011524438.1:c.1268+195C>A (NAGS) XP_011522740.1:n.1268+195C>A
XM_011524439.1:c.869C>A (NAGS) XP_011522741.1:p.Ser290Tyr
XM_011525035.1:c.-463+15883G>T (PYY) XP_011523337.1:n.-463+15883G>T
XM_011524439.2:c.869C>A (NAGS) XP_011522741.1:p.Ser290Tyr
NM_153006.3:c.1367C>A (NAGS) MANE Select NP_694551.1:p.Ser456Tyr