Canonical Allele Identifier: CA8595412

Linked Data

dbSNP Id: rs748981586

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007781C>T , CM000679.2:g.44007781C>T GRCh38
NC_000017.10:g.42085149C>T , CM000679.1:g.42085149C>T GRCh37
NC_000017.9:g.39440675C>T NCBI36
NG_008106.1:g.8118C>T
NG_023338.1:g.1689G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1451+8C>T (NAGS) MANE Select ENSP00000293404.2:n.1451+8C>T
ENST00000293404.7:c.1451+8C>T (NAGS) ENSP00000293404.2:n.1451+8C>T
ENST00000589767.1:c.1382+8C>T (NAGS) ENSP00000465408.1:n.1382+8C>T
ENST00000592915.1:n.1339+8C>T (NAGS)
NM_153006.2:c.1451+8C>T (NAGS) NP_694551.1:n.1451+8C>T
XM_011524438.1:c.1268+287C>T (NAGS) XP_011522740.1:n.1268+287C>T
XM_011524439.1:c.953+8C>T (NAGS) XP_011522741.1:n.953+8C>T
XM_011525035.1:c.-463+15791G>A (PYY) XP_011523337.1:n.-463+15791G>A
XM_011524439.2:c.953+8C>T (NAGS) XP_011522741.1:n.953+8C>T
NM_153006.3:c.1451+8C>T (NAGS) MANE Select NP_694551.1:n.1451+8C>T