Canonical Allele Identifier: CA2261182897

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007800G= , CM000679.2:g.44007800G= GRCh38
NC_000017.10:g.42085168G= , CM000679.1:g.42085168G= GRCh37
NC_000017.9:g.39440694G= NCBI36
NG_008106.1:g.8137G=
NG_023338.1:g.1670C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+27G= (NAGS) MANE Select ENSP00000293404.2:n.1451+27G=
ENST00000293404.7:c.1451+27G= (NAGS) ENSP00000293404.2:n.1451+27G=
ENST00000589767.1:c.1382+27G= (NAGS) ENSP00000465408.1:n.1382+27G=
ENST00000592915.1:n.1339+27G= (NAGS)
NM_153006.2:c.1451+27G= (NAGS) NP_694551.1:n.1451+27G=
XM_011524438.1:c.1268+306G= (NAGS) XP_011522740.1:n.1268+306G=
XM_011524439.1:c.953+27G= (NAGS) XP_011522741.1:n.953+27G=
XM_011525035.1:c.-463+15772C= (PYY) XP_011523337.1:n.-463+15772C=
XM_011524439.2:c.953+27G= (NAGS) XP_011522741.1:n.953+27G=
NM_153006.3:c.1451+27G= (NAGS) MANE Select NP_694551.1:n.1451+27G=