Canonical Allele Identifier: CA500616106

Linked Data

dbSNP Id: rs1175019062

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006141C>T , CM000679.2:g.44006141C>T GRCh38
NC_000017.10:g.42083509C>T , CM000679.1:g.42083509C>T GRCh37
NC_000017.9:g.39439035C>T NCBI36
NG_008106.1:g.6478C>T
NG_023338.1:g.3329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.819C>T (NAGS) MANE Select ENSP00000293404.2:p.Asp273=
ENST00000293404.7:c.819C>T (NAGS) ENSP00000293404.2:p.Asp273=
ENST00000589767.1:c.726C>T (NAGS) ENSP00000465408.1:p.Asp242=
ENST00000592915.1:n.94C>T (NAGS)
NM_153006.2:c.819C>T (NAGS) NP_694551.1:p.Asp273=
XM_011524438.1:c.819C>T (NAGS) XP_011522740.1:p.Asp273=
XM_011524439.1:c.321C>T (NAGS) XP_011522741.1:p.Asp107=
XM_011525035.1:c.-463+17431G>A (PYY) XP_011523337.1:n.-463+17431G>A
XM_011524439.2:c.321C>T (NAGS) XP_011522741.1:p.Asp107=
NM_153006.3:c.819C>T (NAGS) MANE Select NP_694551.1:p.Asp273=