Canonical Allele Identifier: CA2261182284

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006745G= , CM000679.2:g.44006745G= GRCh38
NC_000017.10:g.42084113G= , CM000679.1:g.42084113G= GRCh37
NC_000017.9:g.39439639G= NCBI36
NG_008106.1:g.7082G=
NG_023338.1:g.2725C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+36G= (NAGS) MANE Select ENSP00000293404.2:n.1096+36G=
ENST00000293404.7:c.1096+36G= (NAGS) ENSP00000293404.2:n.1096+36G=
ENST00000589767.1:c.1003+36G= (NAGS) ENSP00000465408.1:n.1003+36G=
ENST00000592915.1:n.407G= (NAGS)
NM_153006.2:c.1096+36G= (NAGS) NP_694551.1:n.1096+36G=
XM_011524438.1:c.1096+36G= (NAGS) XP_011522740.1:n.1096+36G=
XM_011524439.1:c.598+36G= (NAGS) XP_011522741.1:n.598+36G=
XM_011525035.1:c.-463+16827C= (PYY) XP_011523337.1:n.-463+16827C=
XM_011524439.2:c.598+36G= (NAGS) XP_011522741.1:n.598+36G=
NM_153006.3:c.1096+36G= (NAGS) MANE Select NP_694551.1:n.1096+36G=