Canonical Allele Identifier: CA8595313

Linked Data

dbSNP Id: rs761534099

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006745G>A , CM000679.2:g.44006745G>A GRCh38
NC_000017.10:g.42084113G>A , CM000679.1:g.42084113G>A GRCh37
NC_000017.9:g.39439639G>A NCBI36
NG_008106.1:g.7082G>A
NG_023338.1:g.2725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+36G>A (NAGS) MANE Select ENSP00000293404.2:n.1096+36G>A
ENST00000293404.7:c.1096+36G>A (NAGS) ENSP00000293404.2:n.1096+36G>A
ENST00000589767.1:c.1003+36G>A (NAGS) ENSP00000465408.1:n.1003+36G>A
ENST00000592915.1:n.407G>A (NAGS)
NM_153006.2:c.1096+36G>A (NAGS) NP_694551.1:n.1096+36G>A
XM_011524438.1:c.1096+36G>A (NAGS) XP_011522740.1:n.1096+36G>A
XM_011524439.1:c.598+36G>A (NAGS) XP_011522741.1:n.598+36G>A
XM_011525035.1:c.-463+16827C>T (PYY) XP_011523337.1:n.-463+16827C>T
XM_011524439.2:c.598+36G>A (NAGS) XP_011522741.1:n.598+36G>A
NM_153006.3:c.1096+36G>A (NAGS) MANE Select NP_694551.1:n.1096+36G>A