Canonical Allele Identifier: CA14421451

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007984G>C , CM000679.2:g.44007984G>C GRCh38
NC_000017.10:g.42085352G>C , CM000679.1:g.42085352G>C GRCh37
NC_000017.9:g.39440878G>C NCBI36
NG_008106.1:g.8321G>C
NG_023338.1:g.1486C>G

Transcript Alleles

HGVS Amino-acid Change
NM_153006.3:c.1451+211G>C (NAGS) MANE Select NP_694551.1:n.1451+211G>C
ENST00000293404.8:c.1451+211G>C (NAGS) MANE Select ENSP00000293404.2:n.1451+211G>C
NM_153006.2:c.1451+211G>C (NAGS) NP_694551.1:n.1451+211G>C
ENST00000293404.7:c.1451+211G>C (NAGS) ENSP00000293404.2:n.1451+211G>C
ENST00000589767.1:c.1382+211G>C (NAGS) ENSP00000465408.1:n.1382+211G>C
ENST00000592915.1:n.1339+211G>C (NAGS)
XM_011524438.1:c.1269-464G>C (NAGS) XP_011522740.1:n.1269-464G>C
XM_011524439.1:c.953+211G>C (NAGS) XP_011522741.1:n.953+211G>C
XM_011524439.2:c.953+211G>C (NAGS) XP_011522741.1:n.953+211G>C
XM_011525035.1:c.-463+15588C>G (PYY) XP_011523337.1:n.-463+15588C>G