Canonical Allele Identifier: CA4008337

Gene: EYA4 TARID

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133512777A>G , CM000668.2:g.133512777A>G	GRCh38
NC_000006.11:g.133833915A>G , CM000668.1:g.133833915A>G	GRCh37
NC_000006.10:g.133875608A>G	NCBI36
NG_011596.1:g.276421A>G
NG_011596.2:g.276421A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004100.5:c.1338A>G (EYA4) MANE Select	NP_004091.3:p.Leu446=
ENST00000355286.12:c.1338A>G (EYA4) MANE Select	ENSP00000347434.7:p.Leu446=
NM_001301012.1:c.1176A>G (EYA4)	NP_001287941.1:p.Leu392=
NM_001301012.2:c.1176A>G (EYA4)	NP_001287941.1:p.Leu392=
NM_001301013.1:c.1356A>G (EYA4)	NP_001287942.1:p.Leu452=
NM_001301013.2:c.1356A>G (EYA4)	NP_001287942.1:p.Leu452=
NM_001370458.1:c.1269A>G (EYA4)	NP_001357387.1:p.Leu423=
NM_001370459.1:c.1194A>G (EYA4)	NP_001357388.1:p.Leu398=
NM_004100.4:c.1338A>G (EYA4)	NP_004091.3:p.Leu446=
NM_172103.3:c.1269A>G (EYA4)	NP_742101.2:p.Leu423=
NM_172103.4:c.1269A>G (EYA4)	NP_742101.2:p.Leu423=
NM_172105.3:c.1338A>G (EYA4)	NP_742103.1:p.Leu446=
NM_172105.4:c.1338A>G (EYA4)	NP_742103.1:p.Leu446=
NR_109982.1:n.2286-5456T>C (TARID)
ENST00000355167.7:c.1338A>G (EYA4)	ENSP00000347294.3:p.Leu446=
ENST00000355167.8:c.1194A>G (EYA4)	ENSP00000347294.4:p.Leu398=
ENST00000355286.10:c.1269A>G (EYA4)	ENSP00000347434.6:p.Leu423=
ENST00000367895.9:c.1338A>G (EYA4)	ENSP00000356870.5:p.Leu446=
ENST00000430974.6:c.1194A>G (EYA4)	ENSP00000388670.2:p.Leu398=
ENST00000431403.2:c.1338A>G (EYA4)	ENSP00000404558.2:p.Leu446=
ENST00000431403.3:c.1269A>G (EYA4)	ENSP00000404558.3:p.Leu423=
ENST00000452339.6:c.1176A>G (EYA4)	ENSP00000395916.2:p.Leu392=
ENST00000525849.5:c.1269A>G (EYA4)	ENSP00000433219.1:p.Leu423=
ENST00000525849.6:c.1269A>G (EYA4)	ENSP00000433219.1:p.Leu423=
ENST00000525849.7:c.1269A>G (EYA4)	ENSP00000433219.1:p.Leu423=
ENST00000531861.5:n.1338A>G (EYA4)
ENST00000531901.5:c.1356A>G (EYA4)	ENSP00000432770.1:p.Leu452=
ENST00000532518.1:n.684A>G (EYA4)
ENST00000683325.1:c.861A>G (EYA4)	ENSP00000508141.1:p.Leu287=
ENST00000683674.1:n.239A>G (EYA4)
ENST00000684773.1:c.861A>G (EYA4)	ENSP00000506812.1:p.Leu287=
ENST00000706301.1:c.1176A>G (EYA4)	ENSP00000516341.1:p.Leu392=
XM_005266851.3:c.1356A>G (EYA4)	XP_005266908.1:p.Leu452=
XM_005266851.5:c.1356A>G (EYA4)	XP_005266908.1:p.Leu452=
XM_005266852.3:c.1356A>G (EYA4)	XP_005266909.1:p.Leu452=
XM_005266853.3:c.1269A>G (EYA4)	XP_005266910.1:p.Leu423=
XM_005266853.5:c.1269A>G (EYA4)	XP_005266910.1:p.Leu423=
XM_011535540.1:c.1287A>G (EYA4)	XP_011533842.1:p.Leu429=
XM_011535541.1:c.1272A>G (EYA4)	XP_011533843.1:p.Leu424=
XM_011535542.1:c.1194A>G (EYA4)	XP_011533844.1:p.Leu398=
XM_017010368.2:c.1356A>G (EYA4)	XP_016865857.1:p.Leu452=
XM_017010369.2:c.1338A>G (EYA4)	XP_016865858.1:p.Leu446=
XM_017010370.2:c.1287A>G (EYA4)	XP_016865859.1:p.Leu429=
XM_017010371.2:c.1272A>G (EYA4)	XP_016865860.1:p.Leu424=
XM_017010372.2:c.1194A>G (EYA4)	XP_016865861.1:p.Leu398=
XM_017010373.2:c.1176A>G (EYA4)	XP_016865862.1:p.Leu392=
XM_017010374.2:c.1194A>G (EYA4)	XP_016865863.1:p.Leu398=
XM_017010375.1:c.1194A>G (EYA4)	XP_016865864.1:p.Leu398=
XR_001743219.2:n.1518A>G (EYA4)
XR_001743220.2:n.1500A>G (EYA4)