Canonical Allele Identifier: CA8595420

Linked Data

dbSNP Id: rs775511550

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007788T>A , CM000679.2:g.44007788T>A GRCh38
NC_000017.10:g.42085156T>A , CM000679.1:g.42085156T>A GRCh37
NC_000017.9:g.39440682T>A NCBI36
NG_008106.1:g.8125T>A
NG_023338.1:g.1682A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+15T>A (NAGS) MANE Select ENSP00000293404.2:n.1451+15T>A
ENST00000293404.7:c.1451+15T>A (NAGS) ENSP00000293404.2:n.1451+15T>A
ENST00000589767.1:c.1382+15T>A (NAGS) ENSP00000465408.1:n.1382+15T>A
ENST00000592915.1:n.1339+15T>A (NAGS)
NM_153006.2:c.1451+15T>A (NAGS) NP_694551.1:n.1451+15T>A
XM_011524438.1:c.1268+294T>A (NAGS) XP_011522740.1:n.1268+294T>A
XM_011524439.1:c.953+15T>A (NAGS) XP_011522741.1:n.953+15T>A
XM_011525035.1:c.-463+15784A>T (PYY) XP_011523337.1:n.-463+15784A>T
XM_011524439.2:c.953+15T>A (NAGS) XP_011522741.1:n.953+15T>A
NM_153006.3:c.1451+15T>A (NAGS) MANE Select NP_694551.1:n.1451+15T>A