Canonical Allele Identifier: CA365695660

Gene: EYA4 TARID

Linked Data

• ClinVar Variation Id: 2701973
• ClinVar RCV Id: RCV003508000
• gnomAD v4: 6-133515435-G-C
• MyVariant Identifiers: chr6:g.133836573G>C (hg19) ; chr6:g.133515435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133515435G>C , CM000668.2:g.133515435G>C	GRCh38
NC_000006.11:g.133836573G>C , CM000668.1:g.133836573G>C	GRCh37
NC_000006.10:g.133878266G>C	NCBI36
NG_011596.1:g.279079G>C
NG_011596.2:g.279079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525849.7:c.1547G>C (EYA4)	ENSP00000433219.1:p.Arg516Thr
ENST00000706301.1:c.1454G>C (EYA4)	ENSP00000516341.1:p.Arg485Thr
ENST00000355167.8:c.1472G>C (EYA4)	ENSP00000347294.4:p.Arg491Thr
ENST00000683325.1:c.*189G>C (EYA4)	ENSP00000508141.1:n.*189G>C
ENST00000683674.1:n.517G>C (EYA4)
ENST00000684773.1:c.1139G>C (EYA4)	ENSP00000506812.1:p.Arg380Thr
ENST00000355286.12:c.1616G>C (EYA4) MANE Select	ENSP00000347434.7:p.Arg539Thr
ENST00000431403.3:c.1547G>C (EYA4)	ENSP00000404558.3:p.Arg516Thr
ENST00000525849.6:c.1547G>C (EYA4)	ENSP00000433219.1:p.Arg516Thr
ENST00000355167.7:c.1616G>C (EYA4)	ENSP00000347294.3:p.Arg539Thr
ENST00000355286.10:c.1547G>C (EYA4)	ENSP00000347434.6:p.Arg516Thr
ENST00000367895.9:c.1616G>C (EYA4)	ENSP00000356870.5:p.Arg539Thr
ENST00000430974.6:c.1472G>C (EYA4)	ENSP00000388670.2:p.Arg491Thr
ENST00000431403.2:c.1616G>C (EYA4)	ENSP00000404558.2:p.Arg539Thr
ENST00000452339.6:c.1454G>C (EYA4)	ENSP00000395916.2:p.Arg485Thr
ENST00000525849.5:c.1547G>C (EYA4)	ENSP00000433219.1:p.Arg516Thr
ENST00000531901.5:c.1634G>C (EYA4)	ENSP00000432770.1:p.Arg545Thr
NM_001301012.1:c.1454G>C (EYA4)	NP_001287941.1:p.Arg485Thr
NM_001301013.1:c.1634G>C (EYA4)	NP_001287942.1:p.Arg545Thr
NM_004100.4:c.1616G>C (EYA4)	NP_004091.3:p.Arg539Thr
NM_172103.3:c.1547G>C (EYA4)	NP_742101.2:p.Arg516Thr
NM_172105.3:c.1616G>C (EYA4)	NP_742103.1:p.Arg539Thr
NR_109982.1:n.2286-8114C>G (TARID)
XM_005266851.3:c.1634G>C (EYA4)	XP_005266908.1:p.Arg545Thr
XM_005266852.3:c.1634G>C (EYA4)	XP_005266909.1:p.Arg545Thr
XM_005266853.3:c.1547G>C (EYA4)	XP_005266910.1:p.Arg516Thr
XM_011535540.1:c.1565G>C (EYA4)	XP_011533842.1:p.Arg522Thr
XM_011535541.1:c.1550G>C (EYA4)	XP_011533843.1:p.Arg517Thr
XM_011535542.1:c.1472G>C (EYA4)	XP_011533844.1:p.Arg491Thr
XM_005266851.5:c.1634G>C (EYA4)	XP_005266908.1:p.Arg545Thr
XM_005266853.5:c.1547G>C (EYA4)	XP_005266910.1:p.Arg516Thr
XM_017010368.2:c.1634G>C (EYA4)	XP_016865857.1:p.Arg545Thr
XM_017010369.2:c.1616G>C (EYA4)	XP_016865858.1:p.Arg539Thr
XM_017010370.2:c.1565G>C (EYA4)	XP_016865859.1:p.Arg522Thr
XM_017010371.2:c.1550G>C (EYA4)	XP_016865860.1:p.Arg517Thr
XM_017010372.2:c.1472G>C (EYA4)	XP_016865861.1:p.Arg491Thr
XM_017010373.2:c.1454G>C (EYA4)	XP_016865862.1:p.Arg485Thr
XM_017010374.2:c.1472G>C (EYA4)	XP_016865863.1:p.Arg491Thr
XM_017010375.1:c.1472G>C (EYA4)	XP_016865864.1:p.Arg491Thr
XR_001743220.2:n.1710G>C (EYA4)
NM_004100.5:c.1616G>C (EYA4) MANE Select	NP_004091.3:p.Arg539Thr
NM_001370458.1:c.1547G>C (EYA4)	NP_001357387.1:p.Arg516Thr
NM_001370459.1:c.1472G>C (EYA4)	NP_001357388.1:p.Arg491Thr
NM_001301012.2:c.1454G>C (EYA4)	NP_001287941.1:p.Arg485Thr
NM_001301013.2:c.1634G>C (EYA4)	NP_001287942.1:p.Arg545Thr
NM_172103.4:c.1547G>C (EYA4)	NP_742101.2:p.Arg516Thr
NM_172105.4:c.1616G>C (EYA4)	NP_742103.1:p.Arg539Thr