Canonical Allele Identifier: CA399726565

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006700A>T , CM000679.2:g.44006700A>T GRCh38
NC_000017.10:g.42084068A>T , CM000679.1:g.42084068A>T GRCh37
NC_000017.9:g.39439594A>T NCBI36
NG_008106.1:g.7037A>T
NG_023338.1:g.2770T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1087A>T (NAGS) MANE Select ENSP00000293404.2:p.Ser363Cys
ENST00000293404.7:c.1087A>T (NAGS) ENSP00000293404.2:p.Ser363Cys
ENST00000589767.1:c.994A>T (NAGS) ENSP00000465408.1:p.Ser332Cys
ENST00000592915.1:n.362A>T (NAGS)
NM_153006.2:c.1087A>T (NAGS) NP_694551.1:p.Ser363Cys
XM_011524438.1:c.1087A>T (NAGS) XP_011522740.1:p.Ser363Cys
XM_011524439.1:c.589A>T (NAGS) XP_011522741.1:p.Ser197Cys
XM_011525035.1:c.-463+16872T>A (PYY) XP_011523337.1:n.-463+16872T>A
XM_011524439.2:c.589A>T (NAGS) XP_011522741.1:p.Ser197Cys
NM_153006.3:c.1087A>T (NAGS) MANE Select NP_694551.1:p.Ser363Cys