Canonical Allele Identifier: CA371468969
Gene: EYA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71271825T>A , CM000670.2:g.71271825T>A GRCh38
NC_000008.10:g.72184060T>A , CM000670.1:g.72184060T>A GRCh37
NC_000008.9:g.72346614T>A NCBI36
NG_011735.2:g.95408A>T
NG_011735.3:g.281306A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340726.8:c.899A>T MANE Select ENSP00000342626.3:p.Asp300Val
ENST00000388741.7:c.797A>T ENSP00000373393.2:p.Asp266Val
ENST00000419131.6:c.884A>T ENSP00000410176.1:p.Asp295Val
ENST00000465115.6:c.*178A>T ENSP00000428391.1:n.*178A>T
ENST00000493349.2:c.135A>T
ENST00000496494.6:n.1362A>T
ENST00000642391.1:c.*666A>T ENSP00000496700.1:n.*666A>T
ENST00000643681.1:c.986A>T ENSP00000495390.1:p.Asp329Val
ENST00000644229.1:c.971A>T ENSP00000494568.1:p.Asp324Val
ENST00000644712.1:c.968A>T ENSP00000496188.1:p.Asp323Val
ENST00000645793.1:c.899A>T ENSP00000496255.1:p.Asp300Val
ENST00000647540.1:c.899A>T ENSP00000494438.1:p.Asp300Val
ENST00000303824.11:c.881A>T ENSP00000303221.7:p.Asp294Val
ENST00000340726.7:c.899A>T ENSP00000342626.3:p.Asp300Val
ENST00000388740.4:c.800A>T ENSP00000373392.3:p.Asp267Val
ENST00000388741.6:c.797A>T ENSP00000373393.2:p.Asp266Val
ENST00000388742.8:c.899A>T ENSP00000373394.4:p.Asp300Val
ENST00000388743.6:c.896A>T ENSP00000373395.2:p.Asp299Val
ENST00000419131.5:c.884A>T ENSP00000410176.1:p.Asp295Val
ENST00000465115.5:c.*178A>T ENSP00000428391.1:n.*178A>T
ENST00000493349.1:c.-185A>T ENSP00000428517.1:n.-185A>T
ENST00000496494.5:n.1394A>T
NM_000503.5:c.899A>T NP_000494.2:p.Asp300Val
NM_001288574.1:c.881A>T NP_001275503.1:p.Asp294Val
NM_001288575.1:c.533A>T NP_001275504.1:p.Asp178Val
NM_172058.3:c.899A>T NP_742055.1:p.Asp300Val
NM_172059.3:c.884A>T NP_742056.1:p.Asp295Val
NM_172060.3:c.800A>T NP_742057.1:p.Asp267Val
XM_011517481.1:c.971A>T XP_011515783.1:p.Asp324Val
XM_011517482.1:c.986A>T XP_011515784.1:p.Asp329Val
XM_011517483.1:c.896A>T XP_011515785.1:p.Asp299Val
XM_011517484.1:c.884A>T XP_011515786.1:p.Asp295Val
XM_011517485.1:c.899A>T XP_011515787.1:p.Asp300Val
XM_011517486.1:c.899A>T XP_011515788.1:p.Asp300Val
XM_011517487.1:c.899A>T XP_011515789.1:p.Asp300Val
XM_011517488.1:c.896A>T XP_011515790.1:p.Asp299Val
XM_011517489.1:c.836A>T XP_011515791.1:p.Asp279Val
XM_011517490.1:c.800A>T XP_011515792.1:p.Asp267Val
XM_011517491.1:c.800A>T XP_011515793.1:p.Asp267Val
XM_011517492.1:c.548A>T XP_011515794.1:p.Asp183Val
NM_172059.4:c.971A>T NP_742056.2:p.Asp324Val
XM_011517483.2:c.896A>T XP_011515785.1:p.Asp299Val
XM_011517484.3:c.971A>T XP_011515786.2:p.Asp324Val
XM_017013201.1:c.986A>T XP_016868690.1:p.Asp329Val
XM_017013202.1:c.986A>T XP_016868691.1:p.Asp329Val
XM_017013203.2:c.983A>T XP_016868692.1:p.Asp328Val
XM_017013204.2:c.968A>T XP_016868693.1:p.Asp323Val
XM_017013205.2:c.986A>T XP_016868694.1:p.Asp329Val
XM_017013206.1:c.899A>T XP_016868695.1:p.Asp300Val
XM_017013207.2:c.986A>T XP_016868696.1:p.Asp329Val
XM_017013208.2:c.896A>T XP_016868697.1:p.Asp299Val
XM_017013210.2:c.968A>T XP_016868699.1:p.Asp323Val
XM_017013211.2:c.836A>T XP_016868700.1:p.Asp279Val
XM_017013212.2:c.800A>T XP_016868701.1:p.Asp267Val
XM_017013213.1:c.548A>T XP_016868702.1:p.Asp183Val
NM_000503.6:c.899A>T MANE Select NP_000494.2:p.Asp300Val
NM_001288574.2:c.881A>T NP_001275503.1:p.Asp294Val
NM_001288575.2:c.533A>T NP_001275504.1:p.Asp178Val
NM_001370333.1:c.986A>T NP_001357262.1:p.Asp329Val
NM_001370334.1:c.899A>T NP_001357263.1:p.Asp300Val
NM_001370335.1:c.899A>T NP_001357264.1:p.Asp300Val
NM_001370336.1:c.968A>T NP_001357265.1:p.Asp323Val
NM_172058.4:c.899A>T NP_742055.1:p.Asp300Val
NM_172059.5:c.971A>T NP_742056.2:p.Asp324Val