Canonical Allele Identifier: CA399727048

Linked Data

dbSNP Id: rs1330771354

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007436A>G , CM000679.2:g.44007436A>G GRCh38
NC_000017.10:g.42084804A>G , CM000679.1:g.42084804A>G GRCh37
NC_000017.9:g.39440330A>G NCBI36
NG_008106.1:g.7773A>G
NG_023338.1:g.2034T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1210A>G (NAGS) MANE Select ENSP00000293404.2:p.Arg404Gly
ENST00000293404.7:c.1210A>G (NAGS) ENSP00000293404.2:p.Arg404Gly
ENST00000589767.1:c.1117A>G (NAGS) ENSP00000465408.1:p.Arg373Gly
ENST00000592915.1:n.1098A>G (NAGS)
NM_153006.2:c.1210A>G (NAGS) NP_694551.1:p.Arg404Gly
XM_011524438.1:c.1210A>G (NAGS) XP_011522740.1:p.Arg404Gly
XM_011524439.1:c.712A>G (NAGS) XP_011522741.1:p.Arg238Gly
XM_011525035.1:c.-463+16136T>C (PYY) XP_011523337.1:n.-463+16136T>C
XM_011524439.2:c.712A>G (NAGS) XP_011522741.1:p.Arg238Gly
NM_153006.3:c.1210A>G (NAGS) MANE Select NP_694551.1:p.Arg404Gly