Canonical Allele Identifier: CA8595424
Community Standard Title: NM_153006.3(NAGS):c.1451+27G>C

Genomic Alleles

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

Transcript Alleles

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