Canonical Allele Identifier: CA2261182632

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007327C= , CM000679.2:g.44007327C= GRCh38
NC_000017.10:g.42084695C= , CM000679.1:g.42084695C= GRCh37
NC_000017.9:g.39440221C= NCBI36
NG_008106.1:g.7664C=
NG_023338.1:g.2143G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1101C= (NAGS) MANE Select ENSP00000293404.2:p.Ser367=
ENST00000293404.7:c.1101C= (NAGS) ENSP00000293404.2:p.Ser367=
ENST00000589767.1:c.1008C= (NAGS) ENSP00000465408.1:p.Ser336=
ENST00000592915.1:n.989C= (NAGS)
NM_153006.2:c.1101C= (NAGS) NP_694551.1:p.Ser367=
XM_011524438.1:c.1101C= (NAGS) XP_011522740.1:p.Ser367=
XM_011524439.1:c.603C= (NAGS) XP_011522741.1:p.Ser201=
XM_011525035.1:c.-463+16245G= (PYY) XP_011523337.1:n.-463+16245G=
XM_011524439.2:c.603C= (NAGS) XP_011522741.1:p.Ser201=
NM_153006.3:c.1101C= (NAGS) MANE Select NP_694551.1:p.Ser367=