Canonical Allele Identifier: CA2261182774

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007611T= , CM000679.2:g.44007611T= GRCh38
NC_000017.10:g.42084979T= , CM000679.1:g.42084979T= GRCh37
NC_000017.9:g.39440505T= NCBI36
NG_008106.1:g.7948T=
NG_023338.1:g.1859A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1289T= (NAGS) MANE Select ENSP00000293404.2:p.Leu430=
ENST00000293404.7:c.1289T= (NAGS) ENSP00000293404.2:p.Leu430=
ENST00000589767.1:c.1220T= (NAGS) ENSP00000465408.1:p.Leu407=
ENST00000592915.1:n.1177T= (NAGS)
NM_153006.2:c.1289T= (NAGS) NP_694551.1:p.Leu430=
XM_011524438.1:c.1268+117T= (NAGS) XP_011522740.1:n.1268+117T=
XM_011524439.1:c.791T= (NAGS) XP_011522741.1:p.Leu264=
XM_011525035.1:c.-463+15961A= (PYY) XP_011523337.1:n.-463+15961A=
XM_011524439.2:c.791T= (NAGS) XP_011522741.1:p.Leu264=
NM_153006.3:c.1289T= (NAGS) MANE Select NP_694551.1:p.Leu430=