Canonical Allele Identifier: CA452186571

Gene: EYA4

Linked Data

• MyVariant Identifiers: chr6:g.133782256T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133461118T>C , CM000668.2:g.133461118T>C	GRCh38
NC_000006.11:g.133782256T>C , CM000668.1:g.133782256T>C	GRCh37
NC_000006.10:g.133823949T>C	NCBI36
NG_011596.1:g.224762T>C
NG_011596.2:g.224762T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.306T>C	ENSP00000433219.1:p.Ile102=
ENST00000706301.1:c.213T>C	ENSP00000516341.1:p.Ile71=
ENST00000355167.8:c.213T>C	ENSP00000347294.4:p.Ile71=
ENST00000683664.1:n.341T>C
ENST00000684773.1:c.-103T>C	ENSP00000506812.1:n.-103T>C
ENST00000355286.12:c.375T>C MANE Select	ENSP00000347434.7:p.Ile125=
ENST00000431403.3:c.306T>C	ENSP00000404558.3:p.Ile102=
ENST00000525614.2:n.550T>C
ENST00000525849.6:c.306T>C	ENSP00000433219.1:p.Ile102=
ENST00000355167.7:c.375T>C	ENSP00000347294.3:p.Ile125=
ENST00000355286.10:c.306T>C	ENSP00000347434.6:p.Ile102=
ENST00000367895.9:c.375T>C	ENSP00000356870.5:p.Ile125=
ENST00000421413.6:n.477T>C
ENST00000430974.6:c.213T>C	ENSP00000388670.2:p.Ile71=
ENST00000431403.2:c.375T>C	ENSP00000404558.2:p.Ile125=
ENST00000452339.6:c.213T>C	ENSP00000395916.2:p.Ile71=
ENST00000525614.1:n.550T>C
ENST00000525849.5:c.306T>C	ENSP00000433219.1:p.Ile102=
ENST00000531861.5:n.375T>C
ENST00000531901.5:c.375T>C	ENSP00000432770.1:p.Ile125=
NM_001301012.1:c.213T>C	NP_001287941.1:p.Ile71=
NM_001301013.1:c.375T>C	NP_001287942.1:p.Ile125=
NM_004100.4:c.375T>C	NP_004091.3:p.Ile125=
NM_172103.3:c.306T>C	NP_742101.2:p.Ile102=
NM_172105.3:c.375T>C	NP_742103.1:p.Ile125=
XM_005266851.3:c.375T>C	XP_005266908.1:p.Ile125=
XM_005266852.3:c.375T>C	XP_005266909.1:p.Ile125=
XM_005266853.3:c.306T>C	XP_005266910.1:p.Ile102=
XM_011535540.1:c.306T>C	XP_011533842.1:p.Ile102=
XM_011535541.1:c.291T>C	XP_011533843.1:p.Ile97=
XM_011535542.1:c.213T>C	XP_011533844.1:p.Ile71=
XM_005266851.5:c.375T>C	XP_005266908.1:p.Ile125=
XM_005266853.5:c.306T>C	XP_005266910.1:p.Ile102=
XM_017010368.2:c.375T>C	XP_016865857.1:p.Ile125=
XM_017010369.2:c.375T>C	XP_016865858.1:p.Ile125=
XM_017010370.2:c.306T>C	XP_016865859.1:p.Ile102=
XM_017010371.2:c.291T>C	XP_016865860.1:p.Ile97=
XM_017010372.2:c.213T>C	XP_016865861.1:p.Ile71=
XM_017010373.2:c.213T>C	XP_016865862.1:p.Ile71=
XM_017010374.2:c.213T>C	XP_016865863.1:p.Ile71=
XM_017010375.1:c.213T>C	XP_016865864.1:p.Ile71=
XR_001743219.2:n.537T>C
XR_001743220.2:n.537T>C
NM_004100.5:c.375T>C MANE Select	NP_004091.3:p.Ile125=
NM_001370458.1:c.306T>C	NP_001357387.1:p.Ile102=
NM_001370459.1:c.213T>C	NP_001357388.1:p.Ile71=
NM_001301012.2:c.213T>C	NP_001287941.1:p.Ile71=
NM_001301013.2:c.375T>C	NP_001287942.1:p.Ile125=
NM_172103.4:c.306T>C	NP_742101.2:p.Ile102=
NM_172105.4:c.375T>C	NP_742103.1:p.Ile125=