Canonical Allele Identifier: CA399725550

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006127T>G , CM000679.2:g.44006127T>G GRCh38
NC_000017.10:g.42083495T>G , CM000679.1:g.42083495T>G GRCh37
NC_000017.9:g.39439021T>G NCBI36
NG_008106.1:g.6464T>G
NG_023338.1:g.3343A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.805T>G (NAGS) MANE Select ENSP00000293404.2:p.Ser269Ala
ENST00000293404.7:c.805T>G (NAGS) ENSP00000293404.2:p.Ser269Ala
ENST00000589767.1:c.712T>G (NAGS) ENSP00000465408.1:p.Ser238Ala
ENST00000592915.1:n.80T>G (NAGS)
NM_153006.2:c.805T>G (NAGS) NP_694551.1:p.Ser269Ala
XM_011524438.1:c.805T>G (NAGS) XP_011522740.1:p.Ser269Ala
XM_011524439.1:c.307T>G (NAGS) XP_011522741.1:p.Ser103Ala
XM_011525035.1:c.-463+17445A>C (PYY) XP_011523337.1:n.-463+17445A>C
XM_011524439.2:c.307T>G (NAGS) XP_011522741.1:p.Ser103Ala
NM_153006.3:c.805T>G (NAGS) MANE Select NP_694551.1:p.Ser269Ala