Canonical Allele Identifier: CA15435445
Gene: EYA4 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs212769

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133452410C>T , CM000668.2:g.133452410C>T GRCh38
NC_000006.11:g.133773548C>T , CM000668.1:g.133773548C>T GRCh37
NC_000006.10:g.133815241C>T NCBI36
NG_011596.1:g.216054C>T
NG_011596.2:g.216054C>T

Transcript Alleles

HGVS Amino-acid change
NM_001301012.1:c.208+5656C>T VV NP_001287941.1:p.=
NM_001301013.1:c.278-4146C>T VV NP_001287942.1:p.=
NM_004100.4:c.278-4146C>T VV NP_004091.3:p.=
NM_172103.3:c.209-4146C>T VV NP_742101.2:p.=
NM_172105.3:c.278-4146C>T VV NP_742103.1:p.=
XM_005266851.3:c.278-4146C>T XP_005266908.1:p.=
XM_005266852.3:c.278-4146C>T XP_005266909.1:p.=
XM_005266853.3:c.209-4146C>T XP_005266910.1:p.=
XM_011535540.1:c.209-4146C>T XP_011533842.1:p.=
XM_011535541.1:c.209-4161C>T XP_011533843.1:p.=
XM_011535542.1:c.208+5656C>T XP_011533844.1:p.=
XM_005266851.5:c.278-4146C>T XP_005266908.1:p.=
XM_005266853.5:c.209-4146C>T XP_005266910.1:p.=
XM_017010368.2:c.278-4146C>T XP_016865857.1:p.=
XM_017010369.2:c.278-4146C>T XP_016865858.1:p.=
XM_017010370.2:c.209-4146C>T XP_016865859.1:p.=
XM_017010371.2:c.209-4161C>T XP_016865860.1:p.=
XM_017010372.2:c.208+5656C>T XP_016865861.1:p.=
XM_017010373.2:c.208+5656C>T XP_016865862.1:p.=
XM_017010374.2:c.208+5656C>T XP_016865863.1:p.=
XM_017010375.1:c.208+5656C>T XP_016865864.1:p.=
XR_001743219.2:n.440-4146C>T
XR_001743220.2:n.440-4146C>T
NM_004100.5:c.278-4146C>T VV MANE Preferred NP_004091.3:p.=
ENST00000355167.7:c.278-4146C>T ENSP00000347294.3:p.=
ENST00000355286.10:c.209-4146C>T ENSP00000347434.6:p.=
ENST00000367895.9:c.278-4146C>T ENSP00000356870.5:p.=
ENST00000421413.6:n.380-4146C>T
ENST00000430974.6:c.208+5656C>T ENSP00000388670.2:p.=
ENST00000431403.2:n.278-4146C>T ENSP00000404558.2:p.=
ENST00000452339.6:c.208+5656C>T ENSP00000395916.2:p.=
ENST00000525614.1:n.545+5656C>T
ENST00000525849.5:c.209-4146C>T ENSP00000433219.1:p.=
ENST00000531861.5:n.278-4146C>T
ENST00000531901.5:c.278-4146C>T ENSP00000432770.1:p.=