Canonical Allele Identifier: CA2261182210

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006602G= , CM000679.2:g.44006602G= GRCh38
NC_000017.10:g.42083970G= , CM000679.1:g.42083970G= GRCh37
NC_000017.9:g.39439496G= NCBI36
NG_008106.1:g.6939G=
NG_023338.1:g.2868C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.989G= (NAGS) MANE Select ENSP00000293404.2:p.Arg330=
ENST00000293404.7:c.989G= (NAGS) ENSP00000293404.2:p.Arg330=
ENST00000589767.1:c.896G= (NAGS) ENSP00000465408.1:p.Arg299=
ENST00000592915.1:n.264G= (NAGS)
NM_153006.2:c.989G= (NAGS) NP_694551.1:p.Arg330=
XM_011524438.1:c.989G= (NAGS) XP_011522740.1:p.Arg330=
XM_011524439.1:c.491G= (NAGS) XP_011522741.1:p.Arg164=
XM_011525035.1:c.-463+16970C= (PYY) XP_011523337.1:n.-463+16970C=
XM_011524439.2:c.491G= (NAGS) XP_011522741.1:p.Arg164=
NM_153006.3:c.989G= (NAGS) MANE Select NP_694551.1:p.Arg330=