Canonical Allele Identifier: CA1665008965
Community Standard Title: NM_004100.5(EYA4):c.829G= (p.Gly277=)
Gene: EYA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133468590G= , CM000668.2:g.133468590G= GRCh38
NC_000006.11:g.133789728G= , CM000668.1:g.133789728G= GRCh37
NC_000006.10:g.133831421G= NCBI36
NG_011596.1:g.232234G=
NG_011596.2:g.232234G=

Transcript Alleles

HGVS Amino-acid Change
NM_004100.5:c.829G= MANE Select NP_004091.3:p.Gly277=
ENST00000355286.12:c.829G= MANE Select ENSP00000347434.7:p.Gly277=
NM_001301012.1:c.667G= NP_001287941.1:p.Gly223=
NM_001301012.2:c.667G= NP_001287941.1:p.Gly223=
NM_001301013.1:c.829G= NP_001287942.1:p.Gly277=
NM_001301013.2:c.829G= NP_001287942.1:p.Gly277=
NM_001370458.1:c.760G= NP_001357387.1:p.Gly254=
NM_001370459.1:c.667G= NP_001357388.1:p.Gly223=
NM_004100.4:c.829G= NP_004091.3:p.Gly277=
NM_172103.3:c.760G= NP_742101.2:p.Gly254=
NM_172103.4:c.760G= NP_742101.2:p.Gly254=
NM_172105.3:c.829G= NP_742103.1:p.Gly277=
NM_172105.4:c.829G= NP_742103.1:p.Gly277=
ENST00000355167.7:c.829G= ENSP00000347294.3:p.Gly277=
ENST00000355167.8:c.667G= ENSP00000347294.4:p.Gly223=
ENST00000355286.10:c.760G= ENSP00000347434.6:p.Gly254=
ENST00000367895.9:c.829G= ENSP00000356870.5:p.Gly277=
ENST00000430974.6:c.667G= ENSP00000388670.2:p.Gly223=
ENST00000431403.2:c.829G= ENSP00000404558.2:p.Gly277=
ENST00000431403.3:c.760G= ENSP00000404558.3:p.Gly254=
ENST00000452339.6:c.667G= ENSP00000395916.2:p.Gly223=
ENST00000497350.3:n.1060G=
ENST00000525849.5:c.760G= ENSP00000433219.1:p.Gly254=
ENST00000525849.6:c.760G= ENSP00000433219.1:p.Gly254=
ENST00000525849.7:c.760G= ENSP00000433219.1:p.Gly254=
ENST00000531861.5:n.829G=
ENST00000531901.5:c.829G= ENSP00000432770.1:p.Gly277=
ENST00000532518.1:n.157G=
ENST00000683325.1:c.352G= ENSP00000508141.1:p.Gly118=
ENST00000683664.1:n.795G=
ENST00000684773.1:c.352G= ENSP00000506812.1:p.Gly118=
ENST00000706301.1:c.667G= ENSP00000516341.1:p.Gly223=
XM_005266851.3:c.829G= XP_005266908.1:p.Gly277=
XM_005266851.5:c.829G= XP_005266908.1:p.Gly277=
XM_005266852.3:c.829G= XP_005266909.1:p.Gly277=
XM_005266853.3:c.760G= XP_005266910.1:p.Gly254=
XM_005266853.5:c.760G= XP_005266910.1:p.Gly254=
XM_011535540.1:c.760G= XP_011533842.1:p.Gly254=
XM_011535541.1:c.745G= XP_011533843.1:p.Gly249=
XM_011535542.1:c.667G= XP_011533844.1:p.Gly223=
XM_017010368.2:c.829G= XP_016865857.1:p.Gly277=
XM_017010369.2:c.829G= XP_016865858.1:p.Gly277=
XM_017010370.2:c.760G= XP_016865859.1:p.Gly254=
XM_017010371.2:c.745G= XP_016865860.1:p.Gly249=
XM_017010372.2:c.667G= XP_016865861.1:p.Gly223=
XM_017010373.2:c.667G= XP_016865862.1:p.Gly223=
XM_017010374.2:c.667G= XP_016865863.1:p.Gly223=
XM_017010375.1:c.667G= XP_016865864.1:p.Gly223=
XR_001743219.2:n.991G=
XR_001743220.2:n.991G=