Canonical Allele Identifier: CA2261182239

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006656C= , CM000679.2:g.44006656C= GRCh38
NC_000017.10:g.42084024C= , CM000679.1:g.42084024C= GRCh37
NC_000017.9:g.39439550C= NCBI36
NG_008106.1:g.6993C=
NG_023338.1:g.2814G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1043C= (NAGS) MANE Select ENSP00000293404.2:p.Ser348=
ENST00000293404.7:c.1043C= (NAGS) ENSP00000293404.2:p.Ser348=
ENST00000589767.1:c.950C= (NAGS) ENSP00000465408.1:p.Ser317=
ENST00000592915.1:n.318C= (NAGS)
NM_153006.2:c.1043C= (NAGS) NP_694551.1:p.Ser348=
XM_011524438.1:c.1043C= (NAGS) XP_011522740.1:p.Ser348=
XM_011524439.1:c.545C= (NAGS) XP_011522741.1:p.Ser182=
XM_011525035.1:c.-463+16916G= (PYY) XP_011523337.1:n.-463+16916G=
XM_011524439.2:c.545C= (NAGS) XP_011522741.1:p.Ser182=
NM_153006.3:c.1043C= (NAGS) MANE Select NP_694551.1:p.Ser348=