Canonical Allele Identifier: CA399725887

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006218T>G , CM000679.2:g.44006218T>G GRCh38
NC_000017.10:g.42083586T>G , CM000679.1:g.42083586T>G GRCh37
NC_000017.9:g.39439112T>G NCBI36
NG_008106.1:g.6555T>G
NG_023338.1:g.3252A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.896T>G (NAGS) MANE Select ENSP00000293404.2:p.Leu299Arg
ENST00000293404.7:c.896T>G (NAGS) ENSP00000293404.2:p.Leu299Arg
ENST00000589767.1:c.803T>G (NAGS) ENSP00000465408.1:p.Leu268Arg
ENST00000592915.1:n.171T>G (NAGS)
NM_153006.2:c.896T>G (NAGS) NP_694551.1:p.Leu299Arg
XM_011524438.1:c.896T>G (NAGS) XP_011522740.1:p.Leu299Arg
XM_011524439.1:c.398T>G (NAGS) XP_011522741.1:p.Leu133Arg
XM_011525035.1:c.-463+17354A>C (PYY) XP_011523337.1:n.-463+17354A>C
XM_011524439.2:c.398T>G (NAGS) XP_011522741.1:p.Leu133Arg
NM_153006.3:c.896T>G (NAGS) MANE Select NP_694551.1:p.Leu299Arg