Canonical Allele Identifier: CA399726533

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006692A>C , CM000679.2:g.44006692A>C GRCh38
NC_000017.10:g.42084060A>C , CM000679.1:g.42084060A>C GRCh37
NC_000017.9:g.39439586A>C NCBI36
NG_008106.1:g.7029A>C
NG_023338.1:g.2778T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1079A>C (NAGS) MANE Select ENSP00000293404.2:p.Glu360Ala
ENST00000293404.7:c.1079A>C (NAGS) ENSP00000293404.2:p.Glu360Ala
ENST00000589767.1:c.986A>C (NAGS) ENSP00000465408.1:p.Glu329Ala
ENST00000592915.1:n.354A>C (NAGS)
NM_153006.2:c.1079A>C (NAGS) NP_694551.1:p.Glu360Ala
XM_011524438.1:c.1079A>C (NAGS) XP_011522740.1:p.Glu360Ala
XM_011524439.1:c.581A>C (NAGS) XP_011522741.1:p.Glu194Ala
XM_011525035.1:c.-463+16880T>G (PYY) XP_011523337.1:n.-463+16880T>G
XM_011524439.2:c.581A>C (NAGS) XP_011522741.1:p.Glu194Ala
NM_153006.3:c.1079A>C (NAGS) MANE Select NP_694551.1:p.Glu360Ala