Canonical Allele Identifier: CA399725576

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006134T>G , CM000679.2:g.44006134T>G GRCh38
NC_000017.10:g.42083502T>G , CM000679.1:g.42083502T>G GRCh37
NC_000017.9:g.39439028T>G NCBI36
NG_008106.1:g.6471T>G
NG_023338.1:g.3336A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.812T>G (NAGS) MANE Select ENSP00000293404.2:p.Leu271Arg
ENST00000293404.7:c.812T>G (NAGS) ENSP00000293404.2:p.Leu271Arg
ENST00000589767.1:c.719T>G (NAGS) ENSP00000465408.1:p.Leu240Arg
ENST00000592915.1:n.87T>G (NAGS)
NM_153006.2:c.812T>G (NAGS) NP_694551.1:p.Leu271Arg
XM_011524438.1:c.812T>G (NAGS) XP_011522740.1:p.Leu271Arg
XM_011524439.1:c.314T>G (NAGS) XP_011522741.1:p.Leu105Arg
XM_011525035.1:c.-463+17438A>C (PYY) XP_011523337.1:n.-463+17438A>C
XM_011524439.2:c.314T>G (NAGS) XP_011522741.1:p.Leu105Arg
NM_153006.3:c.812T>G (NAGS) MANE Select NP_694551.1:p.Leu271Arg