Canonical Allele Identifier: CA452188069
Community Standard Title: NM_004100.5(EYA4):c.1800A>G (p.Val600=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133525215A>G , CM000668.2:g.133525215A>G GRCh38
NC_000006.11:g.133846353A>G , CM000668.1:g.133846353A>G GRCh37
NC_000006.10:g.133888046A>G NCBI36
NG_011596.1:g.288859A>G
NG_011596.2:g.288859A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004100.5:c.1800A>G (EYA4) MANE Select NP_004091.3:p.Val600=
ENST00000355286.12:c.1800A>G (EYA4) MANE Select ENSP00000347434.7:p.Val600=
NM_001301012.1:c.1677+100A>G (EYA4) NP_001287941.1:n.1677+100A>G
NM_001301012.2:c.1677+100A>G (EYA4) NP_001287941.1:n.1677+100A>G
NM_001301013.1:c.1818A>G (EYA4) NP_001287942.1:p.Val606=
NM_001301013.2:c.1818A>G (EYA4) NP_001287942.1:p.Val606=
NM_001370458.1:c.1770+100A>G (EYA4) NP_001357387.1:n.1770+100A>G
NM_001370459.1:c.1656A>G (EYA4) NP_001357388.1:p.Val552=
NM_004100.4:c.1800A>G (EYA4) NP_004091.3:p.Val600=
NM_172103.3:c.1731A>G (EYA4) NP_742101.2:p.Val577=
NM_172103.4:c.1731A>G (EYA4) NP_742101.2:p.Val577=
NM_172105.3:c.1839+100A>G (EYA4) NP_742103.1:n.1839+100A>G
NM_172105.4:c.1839+100A>G (EYA4) NP_742103.1:n.1839+100A>G
NR_109982.1:n.2285+10565T>C (TARID)
ENST00000355167.7:c.1839+100A>G (EYA4) ENSP00000347294.3:n.1839+100A>G
ENST00000355167.8:c.1656A>G (EYA4) ENSP00000347294.4:p.Val552=
ENST00000355286.10:c.1731A>G (EYA4) ENSP00000347434.6:p.Val577=
ENST00000367895.9:c.1800A>G (EYA4) ENSP00000356870.5:p.Val600=
ENST00000430974.6:c.1695+100A>G (EYA4) ENSP00000388670.2:n.1695+100A>G
ENST00000431403.2:c.1839+100A>G (EYA4) ENSP00000404558.2:n.1839+100A>G
ENST00000431403.3:c.1731A>G (EYA4) ENSP00000404558.3:p.Val577=
ENST00000452339.6:c.1677+100A>G (EYA4) ENSP00000395916.2:n.1677+100A>G
ENST00000525849.5:c.1770+100A>G (EYA4) ENSP00000433219.1:n.1770+100A>G
ENST00000525849.6:c.1770+100A>G (EYA4) ENSP00000433219.1:n.1770+100A>G
ENST00000525849.7:c.1770+100A>G (EYA4) ENSP00000433219.1:n.1770+100A>G
ENST00000531901.5:c.1818A>G (EYA4) ENSP00000432770.1:p.Val606=
ENST00000683325.1:c.*512A>G (EYA4) ENSP00000508141.1:n.*512A>G
ENST00000683674.1:n.740+100A>G (EYA4)
ENST00000706301.1:c.1677+100A>G (EYA4) ENSP00000516341.1:n.1677+100A>G
XM_005266851.3:c.1857+100A>G (EYA4) XP_005266908.1:n.1857+100A>G
XM_005266851.5:c.1857+100A>G (EYA4) XP_005266908.1:n.1857+100A>G
XM_005266852.3:c.1857+100A>G (EYA4) XP_005266909.1:n.1857+100A>G
XM_005266853.3:c.1770+100A>G (EYA4) XP_005266910.1:n.1770+100A>G
XM_005266853.5:c.1770+100A>G (EYA4) XP_005266910.1:n.1770+100A>G
XM_011535540.1:c.1749A>G (EYA4) XP_011533842.1:p.Val583=
XM_011535541.1:c.1734A>G (EYA4) XP_011533843.1:p.Val578=
XM_011535542.1:c.1656A>G (EYA4) XP_011533844.1:p.Val552=
XM_017010368.2:c.1818A>G (EYA4) XP_016865857.1:p.Val606=
XM_017010369.2:c.1800A>G (EYA4) XP_016865858.1:p.Val600=
XM_017010370.2:c.1749A>G (EYA4) XP_016865859.1:p.Val583=
XM_017010371.2:c.1734A>G (EYA4) XP_016865860.1:p.Val578=
XM_017010372.2:c.1656A>G (EYA4) XP_016865861.1:p.Val552=
XM_017010373.2:c.1638A>G (EYA4) XP_016865862.1:p.Val546=
XM_017010374.2:c.1695+100A>G (EYA4) XP_016865863.1:n.1695+100A>G
XM_017010375.1:c.1656A>G (EYA4) XP_016865864.1:p.Val552=
XR_001743220.2:n.2033A>G (EYA4)