Canonical Allele Identifier: CA399725874

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006215G>A , CM000679.2:g.44006215G>A GRCh38
NC_000017.10:g.42083583G>A , CM000679.1:g.42083583G>A GRCh37
NC_000017.9:g.39439109G>A NCBI36
NG_008106.1:g.6552G>A
NG_023338.1:g.3255C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.893G>A (NAGS) MANE Select ENSP00000293404.2:p.Gly298Asp
ENST00000293404.7:c.893G>A (NAGS) ENSP00000293404.2:p.Gly298Asp
ENST00000589767.1:c.800G>A (NAGS) ENSP00000465408.1:p.Gly267Asp
ENST00000592915.1:n.168G>A (NAGS)
NM_153006.2:c.893G>A (NAGS) NP_694551.1:p.Gly298Asp
XM_011524438.1:c.893G>A (NAGS) XP_011522740.1:p.Gly298Asp
XM_011524439.1:c.395G>A (NAGS) XP_011522741.1:p.Gly132Asp
XM_011525035.1:c.-463+17357C>T (PYY) XP_011523337.1:n.-463+17357C>T
XM_011524439.2:c.395G>A (NAGS) XP_011522741.1:p.Gly132Asp
NM_153006.3:c.893G>A (NAGS) MANE Select NP_694551.1:p.Gly298Asp