Canonical Allele Identifier: CA2579186793

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271910A>G , CM000670.2:g.71271910A>G	GRCh38
NC_000008.10:g.72184145A>G , CM000670.1:g.72184145A>G	GRCh37
NC_000008.9:g.72346699A>G	NCBI36
NG_011735.2:g.95323T>C
NG_011735.3:g.281221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.827-13T>C MANE Select	ENSP00000342626.3:n.827-13T>C
ENST00000388741.7:c.725-13T>C	ENSP00000373393.2:n.725-13T>C
ENST00000419131.6:c.812-13T>C	ENSP00000410176.1:n.812-13T>C
ENST00000465115.6:c.*106-13T>C	ENSP00000428391.1:n.*106-13T>C
ENST00000493349.2:c.63-13T>C
ENST00000496494.6:n.1290-13T>C
ENST00000642391.1:c.*594-13T>C	ENSP00000496700.1:n.*594-13T>C
ENST00000643681.1:c.914-13T>C	ENSP00000495390.1:n.914-13T>C
ENST00000644229.1:c.899-13T>C	ENSP00000494568.1:n.899-13T>C
ENST00000644712.1:c.896-13T>C	ENSP00000496188.1:n.896-13T>C
ENST00000645793.1:c.827-13T>C	ENSP00000496255.1:n.827-13T>C
ENST00000647540.1:c.827-13T>C	ENSP00000494438.1:n.827-13T>C
ENST00000303824.11:c.809-13T>C	ENSP00000303221.7:n.809-13T>C
ENST00000340726.7:c.827-13T>C	ENSP00000342626.3:n.827-13T>C
ENST00000388740.4:c.728-13T>C	ENSP00000373392.3:n.728-13T>C
ENST00000388741.6:c.725-13T>C	ENSP00000373393.2:n.725-13T>C
ENST00000388742.8:c.827-13T>C	ENSP00000373394.4:n.827-13T>C
ENST00000388743.6:c.824-13T>C	ENSP00000373395.2:n.824-13T>C
ENST00000419131.5:c.812-13T>C	ENSP00000410176.1:n.812-13T>C
ENST00000465115.5:c.*106-13T>C	ENSP00000428391.1:n.*106-13T>C
ENST00000493349.1:c.-257-13T>C	ENSP00000428517.1:n.-257-13T>C
ENST00000496494.5:n.1322-13T>C
NM_000503.5:c.827-13T>C	NP_000494.2:n.827-13T>C
NM_001288574.1:c.809-13T>C	NP_001275503.1:n.809-13T>C
NM_001288575.1:c.461-13T>C	NP_001275504.1:n.461-13T>C
NM_172058.3:c.827-13T>C	NP_742055.1:n.827-13T>C
NM_172059.3:c.812-13T>C	NP_742056.1:n.812-13T>C
NM_172060.3:c.728-13T>C	NP_742057.1:n.728-13T>C
XM_011517481.1:c.899-13T>C	XP_011515783.1:n.899-13T>C
XM_011517482.1:c.914-13T>C	XP_011515784.1:n.914-13T>C
XM_011517483.1:c.824-13T>C	XP_011515785.1:n.824-13T>C
XM_011517484.1:c.812-13T>C	XP_011515786.1:n.812-13T>C
XM_011517485.1:c.827-13T>C	XP_011515787.1:n.827-13T>C
XM_011517486.1:c.827-13T>C	XP_011515788.1:n.827-13T>C
XM_011517487.1:c.827-13T>C	XP_011515789.1:n.827-13T>C
XM_011517488.1:c.824-13T>C	XP_011515790.1:n.824-13T>C
XM_011517489.1:c.764-13T>C	XP_011515791.1:n.764-13T>C
XM_011517490.1:c.728-13T>C	XP_011515792.1:n.728-13T>C
XM_011517491.1:c.728-13T>C	XP_011515793.1:n.728-13T>C
XM_011517492.1:c.476-13T>C	XP_011515794.1:n.476-13T>C
NM_172059.4:c.899-13T>C	NP_742056.2:n.899-13T>C
XM_011517483.2:c.824-13T>C	XP_011515785.1:n.824-13T>C
XM_011517484.3:c.899-13T>C	XP_011515786.2:n.899-13T>C
XM_017013201.1:c.914-13T>C	XP_016868690.1:n.914-13T>C
XM_017013202.1:c.914-13T>C	XP_016868691.1:n.914-13T>C
XM_017013203.2:c.911-13T>C	XP_016868692.1:n.911-13T>C
XM_017013204.2:c.896-13T>C	XP_016868693.1:n.896-13T>C
XM_017013205.2:c.914-13T>C	XP_016868694.1:n.914-13T>C
XM_017013206.1:c.827-13T>C	XP_016868695.1:n.827-13T>C
XM_017013207.2:c.914-13T>C	XP_016868696.1:n.914-13T>C
XM_017013208.2:c.824-13T>C	XP_016868697.1:n.824-13T>C
XM_017013210.2:c.896-13T>C	XP_016868699.1:n.896-13T>C
XM_017013211.2:c.764-13T>C	XP_016868700.1:n.764-13T>C
XM_017013212.2:c.728-13T>C	XP_016868701.1:n.728-13T>C
XM_017013213.1:c.476-13T>C	XP_016868702.1:n.476-13T>C
NM_000503.6:c.827-13T>C MANE Select	NP_000494.2:n.827-13T>C
NM_001288574.2:c.809-13T>C	NP_001275503.1:n.809-13T>C
NM_001288575.2:c.461-13T>C	NP_001275504.1:n.461-13T>C
NM_001370333.1:c.914-13T>C	NP_001357262.1:n.914-13T>C
NM_001370334.1:c.827-13T>C	NP_001357263.1:n.827-13T>C
NM_001370335.1:c.827-13T>C	NP_001357264.1:n.827-13T>C
NM_001370336.1:c.896-13T>C	NP_001357265.1:n.896-13T>C
NM_172058.4:c.827-13T>C	NP_742055.1:n.827-13T>C
NM_172059.5:c.899-13T>C	NP_742056.2:n.899-13T>C