Canonical Allele Identifier: CA399726553

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006697T>C , CM000679.2:g.44006697T>C GRCh38
NC_000017.10:g.42084065T>C , CM000679.1:g.42084065T>C GRCh37
NC_000017.9:g.39439591T>C NCBI36
NG_008106.1:g.7034T>C
NG_023338.1:g.2773A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1084T>C (NAGS) MANE Select ENSP00000293404.2:p.Phe362Leu
ENST00000293404.7:c.1084T>C (NAGS) ENSP00000293404.2:p.Phe362Leu
ENST00000589767.1:c.991T>C (NAGS) ENSP00000465408.1:p.Phe331Leu
ENST00000592915.1:n.359T>C (NAGS)
NM_153006.2:c.1084T>C (NAGS) NP_694551.1:p.Phe362Leu
XM_011524438.1:c.1084T>C (NAGS) XP_011522740.1:p.Phe362Leu
XM_011524439.1:c.586T>C (NAGS) XP_011522741.1:p.Phe196Leu
XM_011525035.1:c.-463+16875A>G (PYY) XP_011523337.1:n.-463+16875A>G
XM_011524439.2:c.586T>C (NAGS) XP_011522741.1:p.Phe196Leu
NM_153006.3:c.1084T>C (NAGS) MANE Select NP_694551.1:p.Phe362Leu