Canonical Allele Identifier: CA290853288

Linked Data

dbSNP Id: rs996960184

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006767G>T , CM000679.2:g.44006767G>T GRCh38
NC_000017.10:g.42084135G>T , CM000679.1:g.42084135G>T GRCh37
NC_000017.9:g.39439661G>T NCBI36
NG_008106.1:g.7104G>T
NG_023338.1:g.2703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+58G>T (NAGS) MANE Select ENSP00000293404.2:n.1096+58G>T
ENST00000293404.7:c.1096+58G>T (NAGS) ENSP00000293404.2:n.1096+58G>T
ENST00000589767.1:c.1003+58G>T (NAGS) ENSP00000465408.1:n.1003+58G>T
ENST00000592915.1:n.429G>T (NAGS)
NM_153006.2:c.1096+58G>T (NAGS) NP_694551.1:n.1096+58G>T
XM_011524438.1:c.1096+58G>T (NAGS) XP_011522740.1:n.1096+58G>T
XM_011524439.1:c.598+58G>T (NAGS) XP_011522741.1:n.598+58G>T
XM_011525035.1:c.-463+16805C>A (PYY) XP_011523337.1:n.-463+16805C>A
XM_011524439.2:c.598+58G>T (NAGS) XP_011522741.1:n.598+58G>T
NM_153006.3:c.1096+58G>T (NAGS) MANE Select NP_694551.1:n.1096+58G>T