Canonical Allele Identifier: CA399725513

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006115G>T , CM000679.2:g.44006115G>T GRCh38
NC_000017.10:g.42083483G>T , CM000679.1:g.42083483G>T GRCh37
NC_000017.9:g.39439009G>T NCBI36
NG_008106.1:g.6452G>T
NG_023338.1:g.3355C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.793G>T (NAGS) MANE Select ENSP00000293404.2:p.Ala265Ser
ENST00000293404.7:c.793G>T (NAGS) ENSP00000293404.2:p.Ala265Ser
ENST00000589767.1:c.700G>T (NAGS) ENSP00000465408.1:p.Ala234Ser
ENST00000592915.1:n.68G>T (NAGS)
NM_153006.2:c.793G>T (NAGS) NP_694551.1:p.Ala265Ser
XM_011524438.1:c.793G>T (NAGS) XP_011522740.1:p.Ala265Ser
XM_011524439.1:c.295G>T (NAGS) XP_011522741.1:p.Ala99Ser
XM_011525035.1:c.-463+17457C>A (PYY) XP_011523337.1:n.-463+17457C>A
XM_011524439.2:c.295G>T (NAGS) XP_011522741.1:p.Ala99Ser
NM_153006.3:c.793G>T (NAGS) MANE Select NP_694551.1:p.Ala265Ser