Canonical Allele Identifier: CA8595253

Linked Data

dbSNP Id: rs758080404

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006233A>G , CM000679.2:g.44006233A>G GRCh38
NC_000017.10:g.42083601A>G , CM000679.1:g.42083601A>G GRCh37
NC_000017.9:g.39439127A>G NCBI36
NG_008106.1:g.6570A>G
NG_023338.1:g.3237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.911A>G (NAGS) MANE Select ENSP00000293404.2:p.His304Arg
ENST00000293404.7:c.911A>G (NAGS) ENSP00000293404.2:p.His304Arg
ENST00000589767.1:c.818A>G (NAGS) ENSP00000465408.1:p.His273Arg
ENST00000592915.1:n.186A>G (NAGS)
NM_153006.2:c.911A>G (NAGS) NP_694551.1:p.His304Arg
XM_011524438.1:c.911A>G (NAGS) XP_011522740.1:p.His304Arg
XM_011524439.1:c.413A>G (NAGS) XP_011522741.1:p.His138Arg
XM_011525035.1:c.-463+17339T>C (PYY) XP_011523337.1:n.-463+17339T>C
XM_011524439.2:c.413A>G (NAGS) XP_011522741.1:p.His138Arg
NM_153006.3:c.911A>G (NAGS) MANE Select NP_694551.1:p.His304Arg