Canonical Allele Identifier: CA2261182155

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006496T= , CM000679.2:g.44006496T= GRCh38
NC_000017.10:g.42083864T= , CM000679.1:g.42083864T= GRCh37
NC_000017.9:g.39439390T= NCBI36
NG_008106.1:g.6833T=
NG_023338.1:g.2974A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.916-33T= (NAGS) MANE Select ENSP00000293404.2:n.916-33T=
ENST00000293404.7:c.916-33T= (NAGS) ENSP00000293404.2:n.916-33T=
ENST00000589767.1:c.823-33T= (NAGS) ENSP00000465408.1:n.823-33T=
ENST00000592915.1:n.191-33T= (NAGS)
NM_153006.2:c.916-33T= (NAGS) NP_694551.1:n.916-33T=
XM_011524438.1:c.916-33T= (NAGS) XP_011522740.1:n.916-33T=
XM_011524439.1:c.418-33T= (NAGS) XP_011522741.1:n.418-33T=
XM_011525035.1:c.-463+17076A= (PYY) XP_011523337.1:n.-463+17076A=
XM_011524439.2:c.418-33T= (NAGS) XP_011522741.1:n.418-33T=
NM_153006.3:c.916-33T= (NAGS) MANE Select NP_694551.1:n.916-33T=