Canonical Allele Identifier: CA10626032

Gene: EYA4 TARID

Linked Data

• ClinVar Variation Id: 355474
• ClinVar RCV Id: RCV000282789 ; RCV000379532
• dbSNP Id: rs886061097
• gnomAD v4: 6-133531555-C-A
• MyVariant Identifiers: chr6:g.133852693C>A (hg19) ; chr6:g.133531555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133531555C>A , CM000668.2:g.133531555C>A	GRCh38
NC_000006.11:g.133852693C>A , CM000668.1:g.133852693C>A	GRCh37
NC_000006.10:g.133894386C>A	NCBI36
NG_011596.1:g.295199C>A
NG_011596.2:g.295199C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.*2750C>A (EYA4)	ENSP00000433219.1:n.*2750C>A
ENST00000706301.1:c.*2750C>A (EYA4)	ENSP00000516341.1:n.*2750C>A
ENST00000355167.8:c.*2750C>A (EYA4)	ENSP00000347294.4:n.*2750C>A
ENST00000355286.12:c.*2750C>A (EYA4) MANE Select	ENSP00000347434.7:n.*2750C>A
ENST00000355167.7:c.*2750C>A (EYA4)	ENSP00000347294.3:n.*2750C>A
ENST00000367895.9:c.*2750C>A (EYA4)	ENSP00000356870.5:n.*2750C>A
NM_001301012.1:c.*2750C>A (EYA4)	NP_001287941.1:n.*2750C>A
NM_001301013.1:c.*2750C>A (EYA4)	NP_001287942.1:n.*2750C>A
NM_004100.4:c.*2750C>A (EYA4)	NP_004091.3:n.*2750C>A
NM_172103.3:c.*2750C>A (EYA4)	NP_742101.2:n.*2750C>A
NM_172105.3:c.*2750C>A (EYA4)	NP_742103.1:n.*2750C>A
NR_109982.1:n.2285+4225G>T (TARID)
XM_005266851.3:c.*2750C>A (EYA4)	XP_005266908.1:n.*2750C>A
XM_005266853.3:c.*2750C>A (EYA4)	XP_005266910.1:n.*2750C>A
XM_011535540.1:c.*2688C>A (EYA4)	XP_011533842.1:n.*2688C>A
XM_011535541.1:c.*2688C>A (EYA4)	XP_011533843.1:n.*2688C>A
XM_011535542.1:c.*2688C>A (EYA4)	XP_011533844.1:n.*2688C>A
XM_005266851.5:c.*2750C>A (EYA4)	XP_005266908.1:n.*2750C>A
XM_005266853.5:c.*2750C>A (EYA4)	XP_005266910.1:n.*2750C>A
XM_017010368.2:c.*6193C>A (EYA4)	XP_016865857.1:n.*6193C>A
XM_017010369.2:c.*6193C>A (EYA4)	XP_016865858.1:n.*6193C>A
XM_017010370.2:c.*6193C>A (EYA4)	XP_016865859.1:n.*6193C>A
XM_017010371.2:c.*6193C>A (EYA4)	XP_016865860.1:n.*6193C>A
XM_017010372.2:c.*6193C>A (EYA4)	XP_016865861.1:n.*6193C>A
XM_017010373.2:c.*6193C>A (EYA4)	XP_016865862.1:n.*6193C>A
XM_017010374.2:c.*2750C>A (EYA4)	XP_016865863.1:n.*2750C>A
XM_017010375.1:c.*2750C>A (EYA4)	XP_016865864.1:n.*2750C>A
XR_001743220.2:n.8373C>A (EYA4)
NM_004100.5:c.*2750C>A (EYA4) MANE Select	NP_004091.3:n.*2750C>A
NM_001370458.1:c.*2750C>A (EYA4)	NP_001357387.1:n.*2750C>A
NM_001370459.1:c.*2750C>A (EYA4)	NP_001357388.1:n.*2750C>A
NM_001301012.2:c.*2750C>A (EYA4)	NP_001287941.1:n.*2750C>A
NM_001301013.2:c.*2750C>A (EYA4)	NP_001287942.1:n.*2750C>A
NM_172103.4:c.*2750C>A (EYA4)	NP_742101.2:n.*2750C>A
NM_172105.4:c.*2750C>A (EYA4)	NP_742103.1:n.*2750C>A