Canonical Allele Identifier: CA115547

Linked Data

ClinVar Variation Id: 2431
ClinVar RCV Id: RCV000002533
dbSNP Id: rs121912591

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006157G>A , CM000679.2:g.44006157G>A GRCh38
NC_000017.10:g.42083525G>A , CM000679.1:g.42083525G>A GRCh37
NC_000017.9:g.39439051G>A NCBI36
NG_008106.1:g.6494G>A
NG_023338.1:g.3313C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.835G>A (NAGS) MANE Select ENSP00000293404.2:p.Ala279Thr
ENST00000293404.7:c.835G>A (NAGS) ENSP00000293404.2:p.Ala279Thr
ENST00000589767.1:c.742G>A (NAGS) ENSP00000465408.1:p.Ala248Thr
ENST00000592915.1:n.110G>A (NAGS)
NM_153006.2:c.835G>A (NAGS) NP_694551.1:p.Ala279Thr
XM_011524438.1:c.835G>A (NAGS) XP_011522740.1:p.Ala279Thr
XM_011524439.1:c.337G>A (NAGS) XP_011522741.1:p.Ala113Thr
XM_011525035.1:c.-463+17415C>T (PYY) XP_011523337.1:n.-463+17415C>T
XM_011524439.2:c.337G>A (NAGS) XP_011522741.1:p.Ala113Thr
NM_153006.3:c.835G>A (NAGS) MANE Select NP_694551.1:p.Ala279Thr