Canonical Allele Identifier: CA399726124

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006573C>G , CM000679.2:g.44006573C>G GRCh38
NC_000017.10:g.42083941C>G , CM000679.1:g.42083941C>G GRCh37
NC_000017.9:g.39439467C>G NCBI36
NG_008106.1:g.6910C>G
NG_023338.1:g.2897G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.960C>G (NAGS) MANE Select ENSP00000293404.2:p.Cys320Trp
ENST00000293404.7:c.960C>G (NAGS) ENSP00000293404.2:p.Cys320Trp
ENST00000589767.1:c.867C>G (NAGS) ENSP00000465408.1:p.Cys289Trp
ENST00000592915.1:n.235C>G (NAGS)
NM_153006.2:c.960C>G (NAGS) NP_694551.1:p.Cys320Trp
XM_011524438.1:c.960C>G (NAGS) XP_011522740.1:p.Cys320Trp
XM_011524439.1:c.462C>G (NAGS) XP_011522741.1:p.Cys154Trp
XM_011525035.1:c.-463+16999G>C (PYY) XP_011523337.1:n.-463+16999G>C
XM_011524439.2:c.462C>G (NAGS) XP_011522741.1:p.Cys154Trp
NM_153006.3:c.960C>G (NAGS) MANE Select NP_694551.1:p.Cys320Trp