Canonical Allele Identifier: CA8595283

Linked Data

dbSNP Id: rs778023213

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006578C>T , CM000679.2:g.44006578C>T GRCh38
NC_000017.10:g.42083946C>T , CM000679.1:g.42083946C>T GRCh37
NC_000017.9:g.39439472C>T NCBI36
NG_008106.1:g.6915C>T
NG_023338.1:g.2892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.965C>T (NAGS) MANE Select ENSP00000293404.2:p.Ala322Val
ENST00000293404.7:c.965C>T (NAGS) ENSP00000293404.2:p.Ala322Val
ENST00000589767.1:c.872C>T (NAGS) ENSP00000465408.1:p.Ala291Val
ENST00000592915.1:n.240C>T (NAGS)
NM_153006.2:c.965C>T (NAGS) NP_694551.1:p.Ala322Val
XM_011524438.1:c.965C>T (NAGS) XP_011522740.1:p.Ala322Val
XM_011524439.1:c.467C>T (NAGS) XP_011522741.1:p.Ala156Val
XM_011525035.1:c.-463+16994G>A (PYY) XP_011523337.1:n.-463+16994G>A
XM_011524439.2:c.467C>T (NAGS) XP_011522741.1:p.Ala156Val
NM_153006.3:c.965C>T (NAGS) MANE Select NP_694551.1:p.Ala322Val