Canonical Allele Identifier: CA399728113

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007763A>G , CM000679.2:g.44007763A>G GRCh38
NC_000017.10:g.42085131A>G , CM000679.1:g.42085131A>G GRCh37
NC_000017.9:g.39440657A>G NCBI36
NG_008106.1:g.8100A>G
NG_023338.1:g.1707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1441A>G (NAGS) MANE Select ENSP00000293404.2:p.Ile481Val
ENST00000293404.7:c.1441A>G (NAGS) ENSP00000293404.2:p.Ile481Val
ENST00000589767.1:c.1372A>G (NAGS) ENSP00000465408.1:p.Ile458Val
ENST00000592915.1:n.1329A>G (NAGS)
NM_153006.2:c.1441A>G (NAGS) NP_694551.1:p.Ile481Val
XM_011524438.1:c.1268+269A>G (NAGS) XP_011522740.1:n.1268+269A>G
XM_011524439.1:c.943A>G (NAGS) XP_011522741.1:p.Ile315Val
XM_011525035.1:c.-463+15809T>C (PYY) XP_011523337.1:n.-463+15809T>C
XM_011524439.2:c.943A>G (NAGS) XP_011522741.1:p.Ile315Val
NM_153006.3:c.1441A>G (NAGS) MANE Select NP_694551.1:p.Ile481Val