Canonical Allele Identifier: CA14379204
Community Standard Title: NM_153006.3(NAGS):c.426+184C>T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44005273C>T , CM000679.2:g.44005273C>T GRCh38
NC_000017.10:g.42082641C>T , CM000679.1:g.42082641C>T GRCh37
NC_000017.9:g.39438167C>T NCBI36
NG_008106.1:g.5610C>T
NG_023338.1:g.4197G>A

Transcript Alleles

HGVS Amino-acid Change
NM_153006.3:c.426+184C>T (NAGS) MANE Select NP_694551.1:n.426+184C>T
ENST00000293404.8:c.426+184C>T (NAGS) MANE Select ENSP00000293404.2:n.426+184C>T
NM_153006.2:c.426+184C>T (NAGS) NP_694551.1:n.426+184C>T
ENST00000293404.7:c.426+184C>T (NAGS) ENSP00000293404.2:n.426+184C>T
ENST00000589767.1:c.333+184C>T (NAGS) ENSP00000465408.1:n.333+184C>T
XM_011524438.1:c.426+184C>T (NAGS) XP_011522740.1:n.426+184C>T
XM_011524439.1:c.-111C>T (NAGS) XP_011522741.1:n.-111C>T
XM_011524439.2:c.-111C>T (NAGS) XP_011522741.1:n.-111C>T
XM_011525035.1:c.-463+18299G>A (PYY) XP_011523337.1:n.-463+18299G>A