Canonical Allele Identifier: CA500241279

Linked Data

dbSNP Id: rs1247832690

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006708G>A , CM000679.2:g.44006708G>A GRCh38
NC_000017.10:g.42084076G>A , CM000679.1:g.42084076G>A GRCh37
NC_000017.9:g.39439602G>A NCBI36
NG_008106.1:g.7045G>A
NG_023338.1:g.2762C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1095G>A (NAGS) MANE Select ENSP00000293404.2:p.Lys365=
ENST00000293404.7:c.1095G>A (NAGS) ENSP00000293404.2:p.Lys365=
ENST00000589767.1:c.1002G>A (NAGS) ENSP00000465408.1:p.Lys334=
ENST00000592915.1:n.370G>A (NAGS)
NM_153006.2:c.1095G>A (NAGS) NP_694551.1:p.Lys365=
XM_011524438.1:c.1095G>A (NAGS) XP_011522740.1:p.Lys365=
XM_011524439.1:c.597G>A (NAGS) XP_011522741.1:p.Lys199=
XM_011525035.1:c.-463+16864C>T (PYY) XP_011523337.1:n.-463+16864C>T
XM_011524439.2:c.597G>A (NAGS) XP_011522741.1:p.Lys199=
NM_153006.3:c.1095G>A (NAGS) MANE Select NP_694551.1:p.Lys365=