Canonical Allele Identifier: CA399726074

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006560T>G , CM000679.2:g.44006560T>G GRCh38
NC_000017.10:g.42083928T>G , CM000679.1:g.42083928T>G GRCh37
NC_000017.9:g.39439454T>G NCBI36
NG_008106.1:g.6897T>G
NG_023338.1:g.2910A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.947T>G (NAGS) MANE Select ENSP00000293404.2:p.Leu316Arg
ENST00000293404.7:c.947T>G (NAGS) ENSP00000293404.2:p.Leu316Arg
ENST00000589767.1:c.854T>G (NAGS) ENSP00000465408.1:p.Leu285Arg
ENST00000592915.1:n.222T>G (NAGS)
NM_153006.2:c.947T>G (NAGS) NP_694551.1:p.Leu316Arg
XM_011524438.1:c.947T>G (NAGS) XP_011522740.1:p.Leu316Arg
XM_011524439.1:c.449T>G (NAGS) XP_011522741.1:p.Leu150Arg
XM_011525035.1:c.-463+17012A>C (PYY) XP_011523337.1:n.-463+17012A>C
XM_011524439.2:c.449T>G (NAGS) XP_011522741.1:p.Leu150Arg
NM_153006.3:c.947T>G (NAGS) MANE Select NP_694551.1:p.Leu316Arg