Canonical Allele Identifier: CA4008458
Community Standard Title: NM_004100.5(EYA4):c.1739-118G>A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133525036G>A , CM000668.2:g.133525036G>A GRCh38
NC_000006.11:g.133846174G>A , CM000668.1:g.133846174G>A GRCh37
NC_000006.10:g.133887867G>A NCBI36
NG_011596.1:g.288680G>A
NG_011596.2:g.288680G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004100.5:c.1739-118G>A (EYA4) MANE Select NP_004091.3:n.1739-118G>A
ENST00000355286.12:c.1739-118G>A (EYA4) MANE Select ENSP00000347434.7:n.1739-118G>A
NM_001301012.1:c.1598G>A (EYA4) NP_001287941.1:p.Arg533His
NM_001301012.2:c.1598G>A (EYA4) NP_001287941.1:p.Arg533His
NM_001301013.1:c.1757-118G>A (EYA4) NP_001287942.1:n.1757-118G>A
NM_001301013.2:c.1757-118G>A (EYA4) NP_001287942.1:n.1757-118G>A
NM_001370458.1:c.1691G>A (EYA4) NP_001357387.1:p.Arg564His
NM_001370459.1:c.1595-118G>A (EYA4) NP_001357388.1:n.1595-118G>A
NM_004100.4:c.1739-118G>A (EYA4) NP_004091.3:n.1739-118G>A
NM_172103.3:c.1670-118G>A (EYA4) NP_742101.2:n.1670-118G>A
NM_172103.4:c.1670-118G>A (EYA4) NP_742101.2:n.1670-118G>A
NM_172105.3:c.1760G>A (EYA4) NP_742103.1:p.Arg587His
NM_172105.4:c.1760G>A (EYA4) NP_742103.1:p.Arg587His
NR_109982.1:n.2285+10744C>T (TARID)
ENST00000355167.7:c.1760G>A (EYA4) ENSP00000347294.3:p.Arg587His
ENST00000355167.8:c.1595-118G>A (EYA4) ENSP00000347294.4:n.1595-118G>A
ENST00000355286.10:c.1670-118G>A (EYA4) ENSP00000347434.6:n.1670-118G>A
ENST00000367895.9:c.1739-118G>A (EYA4) ENSP00000356870.5:n.1739-118G>A
ENST00000430974.6:c.1616G>A (EYA4) ENSP00000388670.2:p.Arg539His
ENST00000431403.2:c.1760G>A (EYA4) ENSP00000404558.2:p.Arg587His
ENST00000431403.3:c.1670-118G>A (EYA4) ENSP00000404558.3:n.1670-118G>A
ENST00000452339.6:c.1598G>A (EYA4) ENSP00000395916.2:p.Arg533His
ENST00000525849.5:c.1691G>A (EYA4) ENSP00000433219.1:p.Arg564His
ENST00000525849.6:c.1691G>A (EYA4) ENSP00000433219.1:p.Arg564His
ENST00000525849.7:c.1691G>A (EYA4) ENSP00000433219.1:p.Arg564His
ENST00000531901.5:c.1757-118G>A (EYA4) ENSP00000432770.1:n.1757-118G>A
ENST00000683325.1:c.*333G>A (EYA4) ENSP00000508141.1:n.*333G>A
ENST00000683674.1:n.661G>A (EYA4)
ENST00000706301.1:c.1598G>A (EYA4) ENSP00000516341.1:p.Arg533His
XM_005266851.3:c.1778G>A (EYA4) XP_005266908.1:p.Arg593His
XM_005266851.5:c.1778G>A (EYA4) XP_005266908.1:p.Arg593His
XM_005266852.3:c.1778G>A (EYA4) XP_005266909.1:p.Arg593His
XM_005266853.3:c.1691G>A (EYA4) XP_005266910.1:p.Arg564His
XM_005266853.5:c.1691G>A (EYA4) XP_005266910.1:p.Arg564His
XM_011535540.1:c.1688-118G>A (EYA4) XP_011533842.1:n.1688-118G>A
XM_011535541.1:c.1673-118G>A (EYA4) XP_011533843.1:n.1673-118G>A
XM_011535542.1:c.1595-118G>A (EYA4) XP_011533844.1:n.1595-118G>A
XM_017010368.2:c.1757-118G>A (EYA4) XP_016865857.1:n.1757-118G>A
XM_017010369.2:c.1739-118G>A (EYA4) XP_016865858.1:n.1739-118G>A
XM_017010370.2:c.1688-118G>A (EYA4) XP_016865859.1:n.1688-118G>A
XM_017010371.2:c.1673-118G>A (EYA4) XP_016865860.1:n.1673-118G>A
XM_017010372.2:c.1595-118G>A (EYA4) XP_016865861.1:n.1595-118G>A
XM_017010373.2:c.1577-118G>A (EYA4) XP_016865862.1:n.1577-118G>A
XM_017010374.2:c.1616G>A (EYA4) XP_016865863.1:p.Arg539His
XM_017010375.1:c.1595-118G>A (EYA4) XP_016865864.1:n.1595-118G>A
XR_001743220.2:n.1854G>A (EYA4)