Canonical Allele Identifier: CA14421449
Community Standard Title: NM_153006.3(NAGS):c.916-57T>C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006472T>C , CM000679.2:g.44006472T>C GRCh38
NC_000017.10:g.42083840T>C , CM000679.1:g.42083840T>C GRCh37
NC_000017.9:g.39439366T>C NCBI36
NG_008106.1:g.6809T>C
NG_023338.1:g.2998A>G

Transcript Alleles

HGVS Amino-acid Change
NM_153006.3:c.916-57T>C (NAGS) MANE Select NP_694551.1:n.916-57T>C
ENST00000293404.8:c.916-57T>C (NAGS) MANE Select ENSP00000293404.2:n.916-57T>C
NM_153006.2:c.916-57T>C (NAGS) NP_694551.1:n.916-57T>C
ENST00000293404.7:c.916-57T>C (NAGS) ENSP00000293404.2:n.916-57T>C
ENST00000589767.1:c.823-57T>C (NAGS) ENSP00000465408.1:n.823-57T>C
ENST00000592915.1:n.191-57T>C (NAGS)
XM_011524438.1:c.916-57T>C (NAGS) XP_011522740.1:n.916-57T>C
XM_011524439.1:c.418-57T>C (NAGS) XP_011522741.1:n.418-57T>C
XM_011524439.2:c.418-57T>C (NAGS) XP_011522741.1:n.418-57T>C
XM_011525035.1:c.-463+17100A>G (PYY) XP_011523337.1:n.-463+17100A>G