Canonical Allele Identifier: CA2261182038

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006260C= , CM000679.2:g.44006260C= GRCh38
NC_000017.10:g.42083628C= , CM000679.1:g.42083628C= GRCh37
NC_000017.9:g.39439154C= NCBI36
NG_008106.1:g.6597C=
NG_023338.1:g.3210G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+23C= (NAGS) MANE Select ENSP00000293404.2:n.915+23C=
ENST00000293404.7:c.915+23C= (NAGS) ENSP00000293404.2:n.915+23C=
ENST00000589767.1:c.822+23C= (NAGS) ENSP00000465408.1:n.822+23C=
ENST00000592915.1:n.190+23C= (NAGS)
NM_153006.2:c.915+23C= (NAGS) NP_694551.1:n.915+23C=
XM_011524438.1:c.915+23C= (NAGS) XP_011522740.1:n.915+23C=
XM_011524439.1:c.417+23C= (NAGS) XP_011522741.1:n.417+23C=
XM_011525035.1:c.-463+17312G= (PYY) XP_011523337.1:n.-463+17312G=
XM_011524439.2:c.417+23C= (NAGS) XP_011522741.1:n.417+23C=
NM_153006.3:c.915+23C= (NAGS) MANE Select NP_694551.1:n.915+23C=