Canonical Allele Identifier: CA399726517

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006686T>G , CM000679.2:g.44006686T>G GRCh38
NC_000017.10:g.42084054T>G , CM000679.1:g.42084054T>G GRCh37
NC_000017.9:g.39439580T>G NCBI36
NG_008106.1:g.7023T>G
NG_023338.1:g.2784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1073T>G (NAGS) MANE Select ENSP00000293404.2:p.Leu358Arg
ENST00000293404.7:c.1073T>G (NAGS) ENSP00000293404.2:p.Leu358Arg
ENST00000589767.1:c.980T>G (NAGS) ENSP00000465408.1:p.Leu327Arg
ENST00000592915.1:n.348T>G (NAGS)
NM_153006.2:c.1073T>G (NAGS) NP_694551.1:p.Leu358Arg
XM_011524438.1:c.1073T>G (NAGS) XP_011522740.1:p.Leu358Arg
XM_011524439.1:c.575T>G (NAGS) XP_011522741.1:p.Leu192Arg
XM_011525035.1:c.-463+16886A>C (PYY) XP_011523337.1:n.-463+16886A>C
XM_011524439.2:c.575T>G (NAGS) XP_011522741.1:p.Leu192Arg
NM_153006.3:c.1073T>G (NAGS) MANE Select NP_694551.1:p.Leu358Arg