Canonical Allele Identifier: CA399726392

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006649C>A , CM000679.2:g.44006649C>A GRCh38
NC_000017.10:g.42084017C>A , CM000679.1:g.42084017C>A GRCh37
NC_000017.9:g.39439543C>A NCBI36
NG_008106.1:g.6986C>A
NG_023338.1:g.2821G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1036C>A (NAGS) MANE Select ENSP00000293404.2:p.His346Asn
ENST00000293404.7:c.1036C>A (NAGS) ENSP00000293404.2:p.His346Asn
ENST00000589767.1:c.943C>A (NAGS) ENSP00000465408.1:p.His315Asn
ENST00000592915.1:n.311C>A (NAGS)
NM_153006.2:c.1036C>A (NAGS) NP_694551.1:p.His346Asn
XM_011524438.1:c.1036C>A (NAGS) XP_011522740.1:p.His346Asn
XM_011524439.1:c.538C>A (NAGS) XP_011522741.1:p.His180Asn
XM_011525035.1:c.-463+16923G>T (PYY) XP_011523337.1:n.-463+16923G>T
XM_011524439.2:c.538C>A (NAGS) XP_011522741.1:p.His180Asn
NM_153006.3:c.1036C>A (NAGS) MANE Select NP_694551.1:p.His346Asn