Canonical Allele Identifier: CA399727772

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007677A>C , CM000679.2:g.44007677A>C GRCh38
NC_000017.10:g.42085045A>C , CM000679.1:g.42085045A>C GRCh37
NC_000017.9:g.39440571A>C NCBI36
NG_008106.1:g.8014A>C
NG_023338.1:g.1793T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1355A>C (NAGS) MANE Select ENSP00000293404.2:p.Gln452Pro
ENST00000293404.7:c.1355A>C (NAGS) ENSP00000293404.2:p.Gln452Pro
ENST00000589767.1:c.1286A>C (NAGS) ENSP00000465408.1:p.Gln429Pro
ENST00000592915.1:n.1243A>C (NAGS)
NM_153006.2:c.1355A>C (NAGS) NP_694551.1:p.Gln452Pro
XM_011524438.1:c.1268+183A>C (NAGS) XP_011522740.1:n.1268+183A>C
XM_011524439.1:c.857A>C (NAGS) XP_011522741.1:p.Gln286Pro
XM_011525035.1:c.-463+15895T>G (PYY) XP_011523337.1:n.-463+15895T>G
XM_011524439.2:c.857A>C (NAGS) XP_011522741.1:p.Gln286Pro
NM_153006.3:c.1355A>C (NAGS) MANE Select NP_694551.1:p.Gln452Pro