Canonical Allele Identifier: CA399725800

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006194T>C , CM000679.2:g.44006194T>C GRCh38
NC_000017.10:g.42083562T>C , CM000679.1:g.42083562T>C GRCh37
NC_000017.9:g.39439088T>C NCBI36
NG_008106.1:g.6531T>C
NG_023338.1:g.3276A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.872T>C (NAGS) MANE Select ENSP00000293404.2:p.Ile291Thr
ENST00000293404.7:c.872T>C (NAGS) ENSP00000293404.2:p.Ile291Thr
ENST00000589767.1:c.779T>C (NAGS) ENSP00000465408.1:p.Ile260Thr
ENST00000592915.1:n.147T>C (NAGS)
NM_153006.2:c.872T>C (NAGS) NP_694551.1:p.Ile291Thr
XM_011524438.1:c.872T>C (NAGS) XP_011522740.1:p.Ile291Thr
XM_011524439.1:c.374T>C (NAGS) XP_011522741.1:p.Ile125Thr
XM_011525035.1:c.-463+17378A>G (PYY) XP_011523337.1:n.-463+17378A>G
XM_011524439.2:c.374T>C (NAGS) XP_011522741.1:p.Ile125Thr
NM_153006.3:c.872T>C (NAGS) MANE Select NP_694551.1:p.Ile291Thr