Canonical Allele Identifier: CA399725299

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44005912G>A , CM000679.2:g.44005912G>A GRCh38
NC_000017.10:g.42083280G>A , CM000679.1:g.42083280G>A GRCh37
NC_000017.9:g.39438806G>A NCBI36
NG_008106.1:g.6249G>A
NG_023338.1:g.3558C>T

Transcript Alleles

HGVS Amino-acid Change
NM_153006.3:c.701+1G>A (NAGS) MANE Select NP_694551.1:n.701+1G>A
ENST00000293404.8:c.701+1G>A (NAGS) MANE Select ENSP00000293404.2:n.701+1G>A
NM_153006.2:c.701+1G>A (NAGS) NP_694551.1:n.701+1G>A
ENST00000293404.7:c.701+1G>A (NAGS) ENSP00000293404.2:n.701+1G>A
ENST00000589767.1:c.608+1G>A (NAGS) ENSP00000465408.1:n.608+1G>A
XM_011524438.1:c.701+1G>A (NAGS) XP_011522740.1:n.701+1G>A
XM_011524439.1:c.203+1G>A (NAGS) XP_011522741.1:n.203+1G>A
XM_011524439.2:c.203+1G>A (NAGS) XP_011522741.1:n.203+1G>A
XM_011525035.1:c.-463+17660C>T (PYY) XP_011523337.1:n.-463+17660C>T