Canonical Allele Identifier: CA2261182853

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007742C= , CM000679.2:g.44007742C= GRCh38
NC_000017.10:g.42085110C= , CM000679.1:g.42085110C= GRCh37
NC_000017.9:g.39440636C= NCBI36
NG_008106.1:g.8079C=
NG_023338.1:g.1728G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1420C= (NAGS) MANE Select ENSP00000293404.2:p.Arg474=
ENST00000293404.7:c.1420C= (NAGS) ENSP00000293404.2:p.Arg474=
ENST00000589767.1:c.1351C= (NAGS) ENSP00000465408.1:p.Arg451=
ENST00000592915.1:n.1308C= (NAGS)
NM_153006.2:c.1420C= (NAGS) NP_694551.1:p.Arg474=
XM_011524438.1:c.1268+248C= (NAGS) XP_011522740.1:n.1268+248C=
XM_011524439.1:c.922C= (NAGS) XP_011522741.1:p.Arg308=
XM_011525035.1:c.-463+15830G= (PYY) XP_011523337.1:n.-463+15830G=
XM_011524439.2:c.922C= (NAGS) XP_011522741.1:p.Arg308=
NM_153006.3:c.1420C= (NAGS) MANE Select NP_694551.1:p.Arg474=