Canonical Allele Identifier: CA290853469
Community Standard Title: NM_153006.3(NAGS):c.1097-236C>T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007087C>T , CM000679.2:g.44007087C>T GRCh38
NC_000017.10:g.42084455C>T , CM000679.1:g.42084455C>T GRCh37
NC_000017.9:g.39439981C>T NCBI36
NG_008106.1:g.7424C>T
NG_023338.1:g.2383G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153006.3:c.1097-236C>T (NAGS) MANE Select NP_694551.1:n.1097-236C>T
ENST00000293404.8:c.1097-236C>T (NAGS) MANE Select ENSP00000293404.2:n.1097-236C>T
NM_153006.2:c.1097-236C>T (NAGS) NP_694551.1:n.1097-236C>T
ENST00000293404.7:c.1097-236C>T (NAGS) ENSP00000293404.2:n.1097-236C>T
ENST00000589767.1:c.1004-236C>T (NAGS) ENSP00000465408.1:n.1004-236C>T
ENST00000592915.1:n.749C>T (NAGS)
XM_011524438.1:c.1097-236C>T (NAGS) XP_011522740.1:n.1097-236C>T
XM_011524439.1:c.599-236C>T (NAGS) XP_011522741.1:n.599-236C>T
XM_011524439.2:c.599-236C>T (NAGS) XP_011522741.1:n.599-236C>T
XM_011525035.1:c.-463+16485G>A (PYY) XP_011523337.1:n.-463+16485G>A