Canonical Allele Identifier: CA399728064

Linked Data

dbSNP Id: rs1185073554

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007752T>C , CM000679.2:g.44007752T>C GRCh38
NC_000017.10:g.42085120T>C , CM000679.1:g.42085120T>C GRCh37
NC_000017.9:g.39440646T>C NCBI36
NG_008106.1:g.8089T>C
NG_023338.1:g.1718A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1430T>C (NAGS) MANE Select ENSP00000293404.2:p.Val477Ala
ENST00000293404.7:c.1430T>C (NAGS) ENSP00000293404.2:p.Val477Ala
ENST00000589767.1:c.1361T>C (NAGS) ENSP00000465408.1:p.Val454Ala
ENST00000592915.1:n.1318T>C (NAGS)
NM_153006.2:c.1430T>C (NAGS) NP_694551.1:p.Val477Ala
XM_011524438.1:c.1268+258T>C (NAGS) XP_011522740.1:n.1268+258T>C
XM_011524439.1:c.932T>C (NAGS) XP_011522741.1:p.Val311Ala
XM_011525035.1:c.-463+15820A>G (PYY) XP_011523337.1:n.-463+15820A>G
XM_011524439.2:c.932T>C (NAGS) XP_011522741.1:p.Val311Ala
NM_153006.3:c.1430T>C (NAGS) MANE Select NP_694551.1:p.Val477Ala