Canonical Allele Identifier: CA399725541

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006124C>G , CM000679.2:g.44006124C>G GRCh38
NC_000017.10:g.42083492C>G , CM000679.1:g.42083492C>G GRCh37
NC_000017.9:g.39439018C>G NCBI36
NG_008106.1:g.6461C>G
NG_023338.1:g.3346G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.802C>G (NAGS) MANE Select ENSP00000293404.2:p.Arg268Gly
ENST00000293404.7:c.802C>G (NAGS) ENSP00000293404.2:p.Arg268Gly
ENST00000589767.1:c.709C>G (NAGS) ENSP00000465408.1:p.Arg237Gly
ENST00000592915.1:n.77C>G (NAGS)
NM_153006.2:c.802C>G (NAGS) NP_694551.1:p.Arg268Gly
XM_011524438.1:c.802C>G (NAGS) XP_011522740.1:p.Arg268Gly
XM_011524439.1:c.304C>G (NAGS) XP_011522741.1:p.Arg102Gly
XM_011525035.1:c.-463+17448G>C (PYY) XP_011523337.1:n.-463+17448G>C
XM_011524439.2:c.304C>G (NAGS) XP_011522741.1:p.Arg102Gly
NM_153006.3:c.802C>G (NAGS) MANE Select NP_694551.1:p.Arg268Gly