Canonical Allele Identifier: CA290852779

Linked Data

dbSNP Id: rs954184141

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006076T>G , CM000679.2:g.44006076T>G GRCh38
NC_000017.10:g.42083444T>G , CM000679.1:g.42083444T>G GRCh37
NC_000017.9:g.39438970T>G NCBI36
NG_008106.1:g.6413T>G
NG_023338.1:g.3394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.754T>G (NAGS) MANE Select ENSP00000293404.2:p.Ser252Ala
ENST00000293404.7:c.754T>G (NAGS) ENSP00000293404.2:p.Ser252Ala
ENST00000589767.1:c.661T>G (NAGS) ENSP00000465408.1:p.Ser221Ala
ENST00000592915.1:n.29T>G (NAGS)
NM_153006.2:c.754T>G (NAGS) NP_694551.1:p.Ser252Ala
XM_011524438.1:c.754T>G (NAGS) XP_011522740.1:p.Ser252Ala
XM_011524439.1:c.256T>G (NAGS) XP_011522741.1:p.Ser86Ala
XM_011525035.1:c.-463+17496A>C (PYY) XP_011523337.1:n.-463+17496A>C
XM_011524439.2:c.256T>G (NAGS) XP_011522741.1:p.Ser86Ala
NM_153006.3:c.754T>G (NAGS) MANE Select NP_694551.1:p.Ser252Ala