Canonical Allele Identifier: CA115550

Linked Data

ClinVar Variation Id: 2433
ClinVar RCV Id: RCV000002535
dbSNP Id: rs104894606

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007772T>C , CM000679.2:g.44007772T>C GRCh38
NC_000017.10:g.42085140T>C , CM000679.1:g.42085140T>C GRCh37
NC_000017.9:g.39440666T>C NCBI36
NG_008106.1:g.8109T>C
NG_023338.1:g.1698A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1450T>C (NAGS) MANE Select ENSP00000293404.2:p.Trp484Arg
ENST00000293404.7:c.1450T>C (NAGS) ENSP00000293404.2:p.Trp484Arg
ENST00000589767.1:c.1381T>C (NAGS) ENSP00000465408.1:p.Trp461Arg
ENST00000592915.1:n.1338T>C (NAGS)
NM_153006.2:c.1450T>C (NAGS) NP_694551.1:p.Trp484Arg
XM_011524438.1:c.1268+278T>C (NAGS) XP_011522740.1:n.1268+278T>C
XM_011524439.1:c.952T>C (NAGS) XP_011522741.1:p.Trp318Arg
XM_011525035.1:c.-463+15800A>G (PYY) XP_011523337.1:n.-463+15800A>G
XM_011524439.2:c.952T>C (NAGS) XP_011522741.1:p.Trp318Arg
NM_153006.3:c.1450T>C (NAGS) MANE Select NP_694551.1:p.Trp484Arg