Canonical Allele Identifier: CA2638146020

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44005982G>T , CM000679.2:g.44005982G>T GRCh38
NC_000017.10:g.42083350G>T , CM000679.1:g.42083350G>T GRCh37
NC_000017.9:g.39438876G>T NCBI36
NG_008106.1:g.6319G>T
NG_023338.1:g.3488C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.702-42G>T (NAGS) MANE Select ENSP00000293404.2:n.702-42G>T
ENST00000293404.7:c.702-42G>T (NAGS) ENSP00000293404.2:n.702-42G>T
ENST00000589767.1:c.609-42G>T (NAGS) ENSP00000465408.1:n.609-42G>T
NM_153006.2:c.702-42G>T (NAGS) NP_694551.1:n.702-42G>T
XM_011524438.1:c.702-42G>T (NAGS) XP_011522740.1:n.702-42G>T
XM_011524439.1:c.204-42G>T (NAGS) XP_011522741.1:n.204-42G>T
XM_011525035.1:c.-463+17590C>A (PYY) XP_011523337.1:n.-463+17590C>A
XM_011524439.2:c.204-42G>T (NAGS) XP_011522741.1:n.204-42G>T
NM_153006.3:c.702-42G>T (NAGS) MANE Select NP_694551.1:n.702-42G>T