Canonical Allele Identifier: CA4132222
Community Standard Title: NM_032415.7(CARD11):c.2059G>A (p.Ala687Thr)
Gene: CARD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2923215C>T , CM000669.2:g.2923215C>T GRCh38
NC_000007.13:g.2962849C>T , CM000669.1:g.2962849C>T GRCh37
NC_000007.12:g.2929375C>T NCBI36
NG_027759.1:g.125661G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032415.7:c.2059G>A MANE Select NP_115791.3:p.Ala687Thr
ENST00000396946.9:c.2059G>A MANE Select ENSP00000380150.4:p.Ala687Thr
NM_001324281.1:c.2059G>A NP_001311210.1:p.Ala687Thr
NM_001324281.2:c.2059G>A NP_001311210.1:p.Ala687Thr
NM_001324281.3:c.2059G>A NP_001311210.1:p.Ala687Thr
NM_032415.5:c.2059G>A NP_115791.3:p.Ala687Thr
NM_032415.6:c.2059G>A NP_115791.3:p.Ala687Thr
ENST00000355508.3:c.472G>A ENSP00000347695.3:p.Ala158Thr
ENST00000396946.8:c.2059G>A ENSP00000380150.4:p.Ala687Thr
ENST00000698637.1:n.2385G>A
XM_011515585.1:c.2059G>A XP_011513887.1:p.Ala687Thr
XM_011515586.1:c.2059G>A XP_011513888.1:p.Ala687Thr
XM_011515586.2:c.2059G>A XP_011513888.1:p.Ala687Thr
XM_011515587.1:c.2056G>A XP_011513889.1:p.Ala686Thr
XM_011515587.2:c.2056G>A XP_011513889.1:p.Ala686Thr
XR_001744885.1:n.2458G>A