Canonical Allele Identifier: CA2638146728

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006367G>T , CM000679.2:g.44006367G>T GRCh38
NC_000017.10:g.42083735G>T , CM000679.1:g.42083735G>T GRCh37
NC_000017.9:g.39439261G>T NCBI36
NG_008106.1:g.6704G>T
NG_023338.1:g.3103C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.915+130G>T (NAGS) MANE Select ENSP00000293404.2:n.915+130G>T
ENST00000293404.7:c.915+130G>T (NAGS) ENSP00000293404.2:n.915+130G>T
ENST00000589767.1:c.822+130G>T (NAGS) ENSP00000465408.1:n.822+130G>T
ENST00000592915.1:n.190+130G>T (NAGS)
NM_153006.2:c.915+130G>T (NAGS) NP_694551.1:n.915+130G>T
XM_011524438.1:c.915+130G>T (NAGS) XP_011522740.1:n.915+130G>T
XM_011524439.1:c.417+130G>T (NAGS) XP_011522741.1:n.417+130G>T
XM_011525035.1:c.-463+17205C>A (PYY) XP_011523337.1:n.-463+17205C>A
XM_011524439.2:c.417+130G>T (NAGS) XP_011522741.1:n.417+130G>T
NM_153006.3:c.915+130G>T (NAGS) MANE Select NP_694551.1:n.915+130G>T