Canonical Allele Identifier: CA290852849

Linked Data

dbSNP Id: rs375437238

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006139G>C , CM000679.2:g.44006139G>C GRCh38
NC_000017.10:g.42083507G>C , CM000679.1:g.42083507G>C GRCh37
NC_000017.9:g.39439033G>C NCBI36
NG_008106.1:g.6476G>C
NG_023338.1:g.3331C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.817G>C (NAGS) MANE Select ENSP00000293404.2:p.Asp273His
ENST00000293404.7:c.817G>C (NAGS) ENSP00000293404.2:p.Asp273His
ENST00000589767.1:c.724G>C (NAGS) ENSP00000465408.1:p.Asp242His
ENST00000592915.1:n.92G>C (NAGS)
NM_153006.2:c.817G>C (NAGS) NP_694551.1:p.Asp273His
XM_011524438.1:c.817G>C (NAGS) XP_011522740.1:p.Asp273His
XM_011524439.1:c.319G>C (NAGS) XP_011522741.1:p.Asp107His
XM_011525035.1:c.-463+17433C>G (PYY) XP_011523337.1:n.-463+17433C>G
XM_011524439.2:c.319G>C (NAGS) XP_011522741.1:p.Asp107His
NM_153006.3:c.817G>C (NAGS) MANE Select NP_694551.1:p.Asp273His