Canonical Allele Identifier: CA399727527

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007618G>A , CM000679.2:g.44007618G>A GRCh38
NC_000017.10:g.42084986G>A , CM000679.1:g.42084986G>A GRCh37
NC_000017.9:g.39440512G>A NCBI36
NG_008106.1:g.7955G>A
NG_023338.1:g.1852C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1296G>A (NAGS) MANE Select ENSP00000293404.2:p.Met432Ile
ENST00000293404.7:c.1296G>A (NAGS) ENSP00000293404.2:p.Met432Ile
ENST00000589767.1:c.1227G>A (NAGS) ENSP00000465408.1:p.Met409Ile
ENST00000592915.1:n.1184G>A (NAGS)
NM_153006.2:c.1296G>A (NAGS) NP_694551.1:p.Met432Ile
XM_011524438.1:c.1268+124G>A (NAGS) XP_011522740.1:n.1268+124G>A
XM_011524439.1:c.798G>A (NAGS) XP_011522741.1:p.Met266Ile
XM_011525035.1:c.-463+15954C>T (PYY) XP_011523337.1:n.-463+15954C>T
XM_011524439.2:c.798G>A (NAGS) XP_011522741.1:p.Met266Ile
NM_153006.3:c.1296G>A (NAGS) MANE Select NP_694551.1:p.Met432Ile