Canonical Allele Identifier: CA399725766

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006185C>A , CM000679.2:g.44006185C>A GRCh38
NC_000017.10:g.42083553C>A , CM000679.1:g.42083553C>A GRCh37
NC_000017.9:g.39439079C>A NCBI36
NG_008106.1:g.6522C>A
NG_023338.1:g.3285G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.863C>A (NAGS) MANE Select ENSP00000293404.2:p.Thr288Asn
ENST00000293404.7:c.863C>A (NAGS) ENSP00000293404.2:p.Thr288Asn
ENST00000589767.1:c.770C>A (NAGS) ENSP00000465408.1:p.Thr257Asn
ENST00000592915.1:n.138C>A (NAGS)
NM_153006.2:c.863C>A (NAGS) NP_694551.1:p.Thr288Asn
XM_011524438.1:c.863C>A (NAGS) XP_011522740.1:p.Thr288Asn
XM_011524439.1:c.365C>A (NAGS) XP_011522741.1:p.Thr122Asn
XM_011525035.1:c.-463+17387G>T (PYY) XP_011523337.1:n.-463+17387G>T
XM_011524439.2:c.365C>A (NAGS) XP_011522741.1:p.Thr122Asn
NM_153006.3:c.863C>A (NAGS) MANE Select NP_694551.1:p.Thr288Asn