Canonical Allele Identifier: CA2261182739

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007542G= , CM000679.2:g.44007542G= GRCh38
NC_000017.10:g.42084910G= , CM000679.1:g.42084910G= GRCh37
NC_000017.9:g.39440436G= NCBI36
NG_008106.1:g.7879G=
NG_023338.1:g.1928C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1269-49G= (NAGS) MANE Select ENSP00000293404.2:n.1269-49G=
ENST00000293404.7:c.1269-49G= (NAGS) ENSP00000293404.2:n.1269-49G=
ENST00000589767.1:c.1176-25G= (NAGS) ENSP00000465408.1:n.1176-25G=
ENST00000592915.1:n.1157-49G= (NAGS)
NM_153006.2:c.1269-49G= (NAGS) NP_694551.1:n.1269-49G=
XM_011524438.1:c.1268+48G= (NAGS) XP_011522740.1:n.1268+48G=
XM_011524439.1:c.771-49G= (NAGS) XP_011522741.1:n.771-49G=
XM_011525035.1:c.-463+16030C= (PYY) XP_011523337.1:n.-463+16030C=
XM_011524439.2:c.771-49G= (NAGS) XP_011522741.1:n.771-49G=
NM_153006.3:c.1269-49G= (NAGS) MANE Select NP_694551.1:n.1269-49G=