Canonical Allele Identifier: CA2261182823

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007700C= , CM000679.2:g.44007700C= GRCh38
NC_000017.10:g.42085068C= , CM000679.1:g.42085068C= GRCh37
NC_000017.9:g.39440594C= NCBI36
NG_008106.1:g.8037C=
NG_023338.1:g.1770G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1378C= (NAGS) MANE Select ENSP00000293404.2:p.Leu460=
ENST00000293404.7:c.1378C= (NAGS) ENSP00000293404.2:p.Leu460=
ENST00000589767.1:c.1309C= (NAGS) ENSP00000465408.1:p.Leu437=
ENST00000592915.1:n.1266C= (NAGS)
NM_153006.2:c.1378C= (NAGS) NP_694551.1:p.Leu460=
XM_011524438.1:c.1268+206C= (NAGS) XP_011522740.1:n.1268+206C=
XM_011524439.1:c.880C= (NAGS) XP_011522741.1:p.Leu294=
XM_011525035.1:c.-463+15872G= (PYY) XP_011523337.1:n.-463+15872G=
XM_011524439.2:c.880C= (NAGS) XP_011522741.1:p.Leu294=
NM_153006.3:c.1378C= (NAGS) MANE Select NP_694551.1:p.Leu460=