Canonical Allele Identifier: CA2638145950

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006759C>A , CM000679.2:g.44006759C>A GRCh38
NC_000017.10:g.42084127C>A , CM000679.1:g.42084127C>A GRCh37
NC_000017.9:g.39439653C>A NCBI36
NG_008106.1:g.7096C>A
NG_023338.1:g.2711G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+50C>A (NAGS) MANE Select ENSP00000293404.2:n.1096+50C>A
ENST00000293404.7:c.1096+50C>A (NAGS) ENSP00000293404.2:n.1096+50C>A
ENST00000589767.1:c.1003+50C>A (NAGS) ENSP00000465408.1:n.1003+50C>A
ENST00000592915.1:n.421C>A (NAGS)
NM_153006.2:c.1096+50C>A (NAGS) NP_694551.1:n.1096+50C>A
XM_011524438.1:c.1096+50C>A (NAGS) XP_011522740.1:n.1096+50C>A
XM_011524439.1:c.598+50C>A (NAGS) XP_011522741.1:n.598+50C>A
XM_011525035.1:c.-463+16813G>T (PYY) XP_011523337.1:n.-463+16813G>T
XM_011524439.2:c.598+50C>A (NAGS) XP_011522741.1:n.598+50C>A
NM_153006.3:c.1096+50C>A (NAGS) MANE Select NP_694551.1:n.1096+50C>A