Canonical Allele Identifier: CA2261182002

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006202A= , CM000679.2:g.44006202A= GRCh38
NC_000017.10:g.42083570A= , CM000679.1:g.42083570A= GRCh37
NC_000017.9:g.39439096A= NCBI36
NG_008106.1:g.6539A=
NG_023338.1:g.3268T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.880A= (NAGS) MANE Select ENSP00000293404.2:p.Asn294=
ENST00000293404.7:c.880A= (NAGS) ENSP00000293404.2:p.Asn294=
ENST00000589767.1:c.787A= (NAGS) ENSP00000465408.1:p.Asn263=
ENST00000592915.1:n.155A= (NAGS)
NM_153006.2:c.880A= (NAGS) NP_694551.1:p.Asn294=
XM_011524438.1:c.880A= (NAGS) XP_011522740.1:p.Asn294=
XM_011524439.1:c.382A= (NAGS) XP_011522741.1:p.Asn128=
XM_011525035.1:c.-463+17370T= (PYY) XP_011523337.1:n.-463+17370T=
XM_011524439.2:c.382A= (NAGS) XP_011522741.1:p.Asn128=
NM_153006.3:c.880A= (NAGS) MANE Select NP_694551.1:p.Asn294=