Canonical Allele Identifier: CA399727992

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007736T>A , CM000679.2:g.44007736T>A GRCh38
NC_000017.10:g.42085104T>A , CM000679.1:g.42085104T>A GRCh37
NC_000017.9:g.39440630T>A NCBI36
NG_008106.1:g.8073T>A
NG_023338.1:g.1734A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1414T>A (NAGS) MANE Select ENSP00000293404.2:p.Phe472Ile
ENST00000293404.7:c.1414T>A (NAGS) ENSP00000293404.2:p.Phe472Ile
ENST00000589767.1:c.1345T>A (NAGS) ENSP00000465408.1:p.Phe449Ile
ENST00000592915.1:n.1302T>A (NAGS)
NM_153006.2:c.1414T>A (NAGS) NP_694551.1:p.Phe472Ile
XM_011524438.1:c.1268+242T>A (NAGS) XP_011522740.1:n.1268+242T>A
XM_011524439.1:c.916T>A (NAGS) XP_011522741.1:p.Phe306Ile
XM_011525035.1:c.-463+15836A>T (PYY) XP_011523337.1:n.-463+15836A>T
XM_011524439.2:c.916T>A (NAGS) XP_011522741.1:p.Phe306Ile
NM_153006.3:c.1414T>A (NAGS) MANE Select NP_694551.1:p.Phe472Ile