Canonical Allele Identifier: CA399726967

Linked Data

dbSNP Id: rs1357752306

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007415G>A , CM000679.2:g.44007415G>A GRCh38
NC_000017.10:g.42084783G>A , CM000679.1:g.42084783G>A GRCh37
NC_000017.9:g.39440309G>A NCBI36
NG_008106.1:g.7752G>A
NG_023338.1:g.2055C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1189G>A (NAGS) MANE Select ENSP00000293404.2:p.Ala397Thr
ENST00000293404.7:c.1189G>A (NAGS) ENSP00000293404.2:p.Ala397Thr
ENST00000589767.1:c.1096G>A (NAGS) ENSP00000465408.1:p.Ala366Thr
ENST00000592915.1:n.1077G>A (NAGS)
NM_153006.2:c.1189G>A (NAGS) NP_694551.1:p.Ala397Thr
XM_011524438.1:c.1189G>A (NAGS) XP_011522740.1:p.Ala397Thr
XM_011524439.1:c.691G>A (NAGS) XP_011522741.1:p.Ala231Thr
XM_011525035.1:c.-463+16157C>T (PYY) XP_011523337.1:n.-463+16157C>T
XM_011524439.2:c.691G>A (NAGS) XP_011522741.1:p.Ala231Thr
NM_153006.3:c.1189G>A (NAGS) MANE Select NP_694551.1:p.Ala397Thr