Canonical Allele Identifier: CA15686144

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125576747A>G , CM000673.2:g.125576747A>G GRCh38
NC_000011.9:g.125446643A>G , CM000673.1:g.125446643A>G GRCh37
NC_000011.8:g.124951853A>G NCBI36
NG_032933.1:g.12346A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278903.11:c.249+432A>G (EI24) MANE Select ENSP00000278903.7:n.249+432A>G
ENST00000530526.1:n.152-3173T>C (STT3A-AS1)
ENST00000648911.1:c.-258-3173T>C (FEZ1) ENSP00000497070.1:n.-258-3173T>C
ENST00000278903.10:c.249+432A>G (EI24) ENSP00000278903.7:n.249+432A>G
ENST00000524723.5:c.378+432A>G (EI24) ENSP00000435923.1:n.378+432A>G
ENST00000527131.2:c.249+432A>G (EI24) ENSP00000433376.1:n.249+432A>G
ENST00000527235.6:c.249+432A>G (EI24) ENSP00000431633.3:n.249+432A>G
ENST00000527520.6:c.207+432A>G (EI24) ENSP00000435225.2:n.207+432A>G
ENST00000527842.6:c.249+432A>G (EI24) ENSP00000435034.2:n.249+432A>G
ENST00000529765.5:n.416+432A>G (EI24)
ENST00000531636.5:c.*77+432A>G (EI24) ENSP00000479171.1:n.*77+432A>G
ENST00000534546.5:c.207+432A>G (EI24) ENSP00000479943.1:n.207+432A>G
ENST00000615917.4:c.-271+432A>G (EI24) ENSP00000477849.1:n.-271+432A>G
ENST00000618552.4:c.-271+432A>G (EI24) ENSP00000480094.1:n.-271+432A>G
ENST00000620753.4:c.249+432A>G (EI24) ENSP00000484510.1:n.249+432A>G
NM_001290135.1:c.207+432A>G (EI24) NP_001277064.1:n.207+432A>G
NM_004879.4:c.249+432A>G (EI24) NP_004870.3:n.249+432A>G
NR_110769.1:n.360+432A>G (EI24)
NR_110770.1:n.460+432A>G (EI24)
NR_132372.1:n.152-3173T>C (STT3A-AS1)
XM_011543069.1:c.249+432A>G (EI24) XP_011541371.1:n.249+432A>G
XM_011543070.1:c.249+432A>G (EI24) XP_011541372.1:n.249+432A>G
XR_948139.1:n.219-3173T>C (STT3A-AS1)
NM_001330419.1:c.249+432A>G (EI24) NP_001317348.1:n.249+432A>G
XM_011543069.2:c.249+432A>G (EI24) XP_011541371.1:n.249+432A>G
NM_004879.5:c.249+432A>G (EI24) MANE Select NP_004870.3:n.249+432A>G
NM_001290135.2:c.207+432A>G (EI24) NP_001277064.1:n.207+432A>G
NM_001330419.2:c.249+432A>G (EI24) NP_001317348.1:n.249+432A>G
NR_110769.2:n.270+432A>G (EI24)
NR_110770.2:n.370+432A>G (EI24)