Canonical Allele Identifier: CA399728121

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007765C>G , CM000679.2:g.44007765C>G GRCh38
NC_000017.10:g.42085133C>G , CM000679.1:g.42085133C>G GRCh37
NC_000017.9:g.39440659C>G NCBI36
NG_008106.1:g.8102C>G
NG_023338.1:g.1705G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1443C>G (NAGS) MANE Select ENSP00000293404.2:p.Ile481Met
ENST00000293404.7:c.1443C>G (NAGS) ENSP00000293404.2:p.Ile481Met
ENST00000589767.1:c.1374C>G (NAGS) ENSP00000465408.1:p.Ile458Met
ENST00000592915.1:n.1331C>G (NAGS)
NM_153006.2:c.1443C>G (NAGS) NP_694551.1:p.Ile481Met
XM_011524438.1:c.1268+271C>G (NAGS) XP_011522740.1:n.1268+271C>G
XM_011524439.1:c.945C>G (NAGS) XP_011522741.1:p.Ile315Met
XM_011525035.1:c.-463+15807G>C (PYY) XP_011523337.1:n.-463+15807G>C
XM_011524439.2:c.945C>G (NAGS) XP_011522741.1:p.Ile315Met
NM_153006.3:c.1443C>G (NAGS) MANE Select NP_694551.1:p.Ile481Met