Canonical Allele Identifier: CA2638146971

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007791C>T , CM000679.2:g.44007791C>T GRCh38
NC_000017.10:g.42085159C>T , CM000679.1:g.42085159C>T GRCh37
NC_000017.9:g.39440685C>T NCBI36
NG_008106.1:g.8128C>T
NG_023338.1:g.1679G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+18C>T (NAGS) MANE Select ENSP00000293404.2:n.1451+18C>T
ENST00000293404.7:c.1451+18C>T (NAGS) ENSP00000293404.2:n.1451+18C>T
ENST00000589767.1:c.1382+18C>T (NAGS) ENSP00000465408.1:n.1382+18C>T
ENST00000592915.1:n.1339+18C>T (NAGS)
NM_153006.2:c.1451+18C>T (NAGS) NP_694551.1:n.1451+18C>T
XM_011524438.1:c.1268+297C>T (NAGS) XP_011522740.1:n.1268+297C>T
XM_011524439.1:c.953+18C>T (NAGS) XP_011522741.1:n.953+18C>T
XM_011525035.1:c.-463+15781G>A (PYY) XP_011523337.1:n.-463+15781G>A
XM_011524439.2:c.953+18C>T (NAGS) XP_011522741.1:n.953+18C>T
NM_153006.3:c.1451+18C>T (NAGS) MANE Select NP_694551.1:n.1451+18C>T