Canonical Allele Identifier: CA399726117

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006572G>A , CM000679.2:g.44006572G>A GRCh38
NC_000017.10:g.42083940G>A , CM000679.1:g.42083940G>A GRCh37
NC_000017.9:g.39439466G>A NCBI36
NG_008106.1:g.6909G>A
NG_023338.1:g.2898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.959G>A (NAGS) MANE Select ENSP00000293404.2:p.Cys320Tyr
ENST00000293404.7:c.959G>A (NAGS) ENSP00000293404.2:p.Cys320Tyr
ENST00000589767.1:c.866G>A (NAGS) ENSP00000465408.1:p.Cys289Tyr
ENST00000592915.1:n.234G>A (NAGS)
NM_153006.2:c.959G>A (NAGS) NP_694551.1:p.Cys320Tyr
XM_011524438.1:c.959G>A (NAGS) XP_011522740.1:p.Cys320Tyr
XM_011524439.1:c.461G>A (NAGS) XP_011522741.1:p.Cys154Tyr
XM_011525035.1:c.-463+17000C>T (PYY) XP_011523337.1:n.-463+17000C>T
XM_011524439.2:c.461G>A (NAGS) XP_011522741.1:p.Cys154Tyr
NM_153006.3:c.959G>A (NAGS) MANE Select NP_694551.1:p.Cys320Tyr