Canonical Allele Identifier: CA365695900

Gene: EYA4

Linked Data

• MyVariant Identifiers: chr6:g.133782260A>T (hg19) ; chr6:g.133461122A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133461122A>T , CM000668.2:g.133461122A>T	GRCh38
NC_000006.11:g.133782260A>T , CM000668.1:g.133782260A>T	GRCh37
NC_000006.10:g.133823953A>T	NCBI36
NG_011596.1:g.224766A>T
NG_011596.2:g.224766A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525849.7:c.310A>T	ENSP00000433219.1:p.Ser104Cys
ENST00000706301.1:c.217A>T	ENSP00000516341.1:p.Ser73Cys
ENST00000355167.8:c.217A>T	ENSP00000347294.4:p.Ser73Cys
ENST00000683664.1:n.345A>T
ENST00000684773.1:c.-99A>T	ENSP00000506812.1:n.-99A>T
ENST00000355286.12:c.379A>T MANE Select	ENSP00000347434.7:p.Ser127Cys
ENST00000431403.3:c.310A>T	ENSP00000404558.3:p.Ser104Cys
ENST00000525614.2:n.554A>T
ENST00000525849.6:c.310A>T	ENSP00000433219.1:p.Ser104Cys
ENST00000355167.7:c.379A>T	ENSP00000347294.3:p.Ser127Cys
ENST00000355286.10:c.310A>T	ENSP00000347434.6:p.Ser104Cys
ENST00000367895.9:c.379A>T	ENSP00000356870.5:p.Ser127Cys
ENST00000421413.6:n.481A>T
ENST00000430974.6:c.217A>T	ENSP00000388670.2:p.Ser73Cys
ENST00000431403.2:c.379A>T	ENSP00000404558.2:p.Ser127Cys
ENST00000452339.6:c.217A>T	ENSP00000395916.2:p.Ser73Cys
ENST00000525614.1:n.554A>T
ENST00000525849.5:c.310A>T	ENSP00000433219.1:p.Ser104Cys
ENST00000531861.5:n.379A>T
ENST00000531901.5:c.379A>T	ENSP00000432770.1:p.Ser127Cys
NM_001301012.1:c.217A>T	NP_001287941.1:p.Ser73Cys
NM_001301013.1:c.379A>T	NP_001287942.1:p.Ser127Cys
NM_004100.4:c.379A>T	NP_004091.3:p.Ser127Cys
NM_172103.3:c.310A>T	NP_742101.2:p.Ser104Cys
NM_172105.3:c.379A>T	NP_742103.1:p.Ser127Cys
XM_005266851.3:c.379A>T	XP_005266908.1:p.Ser127Cys
XM_005266852.3:c.379A>T	XP_005266909.1:p.Ser127Cys
XM_005266853.3:c.310A>T	XP_005266910.1:p.Ser104Cys
XM_011535540.1:c.310A>T	XP_011533842.1:p.Ser104Cys
XM_011535541.1:c.295A>T	XP_011533843.1:p.Ser99Cys
XM_011535542.1:c.217A>T	XP_011533844.1:p.Ser73Cys
XM_005266851.5:c.379A>T	XP_005266908.1:p.Ser127Cys
XM_005266853.5:c.310A>T	XP_005266910.1:p.Ser104Cys
XM_017010368.2:c.379A>T	XP_016865857.1:p.Ser127Cys
XM_017010369.2:c.379A>T	XP_016865858.1:p.Ser127Cys
XM_017010370.2:c.310A>T	XP_016865859.1:p.Ser104Cys
XM_017010371.2:c.295A>T	XP_016865860.1:p.Ser99Cys
XM_017010372.2:c.217A>T	XP_016865861.1:p.Ser73Cys
XM_017010373.2:c.217A>T	XP_016865862.1:p.Ser73Cys
XM_017010374.2:c.217A>T	XP_016865863.1:p.Ser73Cys
XM_017010375.1:c.217A>T	XP_016865864.1:p.Ser73Cys
XR_001743219.2:n.541A>T
XR_001743220.2:n.541A>T
NM_004100.5:c.379A>T MANE Select	NP_004091.3:p.Ser127Cys
NM_001370458.1:c.310A>T	NP_001357387.1:p.Ser104Cys
NM_001370459.1:c.217A>T	NP_001357388.1:p.Ser73Cys
NM_001301012.2:c.217A>T	NP_001287941.1:p.Ser73Cys
NM_001301013.2:c.379A>T	NP_001287942.1:p.Ser127Cys
NM_172103.4:c.310A>T	NP_742101.2:p.Ser104Cys
NM_172105.4:c.379A>T	NP_742103.1:p.Ser127Cys