Canonical Allele Identifier: CA399727842

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007699G>C , CM000679.2:g.44007699G>C GRCh38
NC_000017.10:g.42085067G>C , CM000679.1:g.42085067G>C GRCh37
NC_000017.9:g.39440593G>C NCBI36
NG_008106.1:g.8036G>C
NG_023338.1:g.1771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1377G>C (NAGS) MANE Select ENSP00000293404.2:p.Met459Ile
ENST00000293404.7:c.1377G>C (NAGS) ENSP00000293404.2:p.Met459Ile
ENST00000589767.1:c.1308G>C (NAGS) ENSP00000465408.1:p.Met436Ile
ENST00000592915.1:n.1265G>C (NAGS)
NM_153006.2:c.1377G>C (NAGS) NP_694551.1:p.Met459Ile
XM_011524438.1:c.1268+205G>C (NAGS) XP_011522740.1:n.1268+205G>C
XM_011524439.1:c.879G>C (NAGS) XP_011522741.1:p.Met293Ile
XM_011525035.1:c.-463+15873C>G (PYY) XP_011523337.1:n.-463+15873C>G
XM_011524439.2:c.879G>C (NAGS) XP_011522741.1:p.Met293Ile
NM_153006.3:c.1377G>C (NAGS) MANE Select NP_694551.1:p.Met459Ile