Canonical Allele Identifier: CA148051111

Linked Data

dbSNP Id: rs966785337

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133530222A>G , CM000668.2:g.133530222A>G GRCh38
NC_000006.11:g.133851360A>G , CM000668.1:g.133851360A>G GRCh37
NC_000006.10:g.133893053A>G NCBI36
NG_011596.1:g.293866A>G
NG_011596.2:g.293866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525849.7:c.*1417A>G (EYA4) ENSP00000433219.1:n.*1417A>G
ENST00000706301.1:c.*1417A>G (EYA4) ENSP00000516341.1:n.*1417A>G
ENST00000355167.8:c.*1417A>G (EYA4) ENSP00000347294.4:n.*1417A>G
ENST00000355286.12:c.*1417A>G (EYA4) MANE Select ENSP00000347434.7:n.*1417A>G
ENST00000355167.7:c.*1417A>G (EYA4) ENSP00000347294.3:n.*1417A>G
ENST00000355286.10:c.*1417A>G (EYA4) ENSP00000347434.6:n.*1417A>G
ENST00000367895.9:c.*1417A>G (EYA4) ENSP00000356870.5:n.*1417A>G
ENST00000430974.6:c.1696-987A>G (EYA4) ENSP00000388670.2:n.1696-987A>G
ENST00000525849.5:c.*1417A>G (EYA4) ENSP00000433219.1:n.*1417A>G
NM_001301012.1:c.*1417A>G (EYA4) NP_001287941.1:n.*1417A>G
NM_001301013.1:c.*1417A>G (EYA4) NP_001287942.1:n.*1417A>G
NM_004100.4:c.*1417A>G (EYA4) NP_004091.3:n.*1417A>G
NM_172103.3:c.*1417A>G (EYA4) NP_742101.2:n.*1417A>G
NM_172105.3:c.*1417A>G (EYA4) NP_742103.1:n.*1417A>G
NR_109982.1:n.2285+5558T>C (TARID)
XM_005266851.3:c.*1417A>G (EYA4) XP_005266908.1:n.*1417A>G
XM_005266853.3:c.*1417A>G (EYA4) XP_005266910.1:n.*1417A>G
XM_011535540.1:c.*1355A>G (EYA4) XP_011533842.1:n.*1355A>G
XM_011535541.1:c.*1355A>G (EYA4) XP_011533843.1:n.*1355A>G
XM_011535542.1:c.*1355A>G (EYA4) XP_011533844.1:n.*1355A>G
XM_005266851.5:c.*1417A>G (EYA4) XP_005266908.1:n.*1417A>G
XM_005266853.5:c.*1417A>G (EYA4) XP_005266910.1:n.*1417A>G
XM_017010368.2:c.*4860A>G (EYA4) XP_016865857.1:n.*4860A>G
XM_017010369.2:c.*4860A>G (EYA4) XP_016865858.1:n.*4860A>G
XM_017010370.2:c.*4860A>G (EYA4) XP_016865859.1:n.*4860A>G
XM_017010371.2:c.*4860A>G (EYA4) XP_016865860.1:n.*4860A>G
XM_017010372.2:c.*4860A>G (EYA4) XP_016865861.1:n.*4860A>G
XM_017010373.2:c.*4860A>G (EYA4) XP_016865862.1:n.*4860A>G
XM_017010374.2:c.*1417A>G (EYA4) XP_016865863.1:n.*1417A>G
XM_017010375.1:c.*1417A>G (EYA4) XP_016865864.1:n.*1417A>G
XR_001743220.2:n.7040A>G (EYA4)
NM_004100.5:c.*1417A>G (EYA4) MANE Select NP_004091.3:n.*1417A>G
NM_001370458.1:c.*1417A>G (EYA4) NP_001357387.1:n.*1417A>G
NM_001370459.1:c.*1417A>G (EYA4) NP_001357388.1:n.*1417A>G
NM_001301012.2:c.*1417A>G (EYA4) NP_001287941.1:n.*1417A>G
NM_001301013.2:c.*1417A>G (EYA4) NP_001287942.1:n.*1417A>G
NM_172103.4:c.*1417A>G (EYA4) NP_742101.2:n.*1417A>G
NM_172105.4:c.*1417A>G (EYA4) NP_742103.1:n.*1417A>G