Canonical Allele Identifier: CA2687600545

Gene: EYA1

Linked Data

• gnomAD v4: 8-71271935-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271935C>T , CM000670.2:g.71271935C>T	GRCh38
NC_000008.10:g.72184170C>T , CM000670.1:g.72184170C>T	GRCh37
NC_000008.9:g.72346724C>T	NCBI36
NG_011735.2:g.95298G>A
NG_011735.3:g.281196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.827-38G>A MANE Select	ENSP00000342626.3:n.827-38G>A
ENST00000388741.7:c.725-38G>A	ENSP00000373393.2:n.725-38G>A
ENST00000419131.6:c.812-38G>A	ENSP00000410176.1:n.812-38G>A
ENST00000465115.6:c.*106-38G>A	ENSP00000428391.1:n.*106-38G>A
ENST00000493349.2:c.63-38G>A
ENST00000496494.6:n.1290-38G>A
ENST00000642391.1:c.*594-38G>A	ENSP00000496700.1:n.*594-38G>A
ENST00000643681.1:c.914-38G>A	ENSP00000495390.1:n.914-38G>A
ENST00000644229.1:c.899-38G>A	ENSP00000494568.1:n.899-38G>A
ENST00000644712.1:c.896-38G>A	ENSP00000496188.1:n.896-38G>A
ENST00000645793.1:c.827-38G>A	ENSP00000496255.1:n.827-38G>A
ENST00000647540.1:c.827-38G>A	ENSP00000494438.1:n.827-38G>A
ENST00000303824.11:c.809-38G>A	ENSP00000303221.7:n.809-38G>A
ENST00000340726.7:c.827-38G>A	ENSP00000342626.3:n.827-38G>A
ENST00000388740.4:c.728-38G>A	ENSP00000373392.3:n.728-38G>A
ENST00000388741.6:c.725-38G>A	ENSP00000373393.2:n.725-38G>A
ENST00000388742.8:c.827-38G>A	ENSP00000373394.4:n.827-38G>A
ENST00000388743.6:c.824-38G>A	ENSP00000373395.2:n.824-38G>A
ENST00000419131.5:c.812-38G>A	ENSP00000410176.1:n.812-38G>A
ENST00000465115.5:c.*106-38G>A	ENSP00000428391.1:n.*106-38G>A
ENST00000493349.1:c.-257-38G>A	ENSP00000428517.1:n.-257-38G>A
ENST00000496494.5:n.1322-38G>A
NM_000503.5:c.827-38G>A	NP_000494.2:n.827-38G>A
NM_001288574.1:c.809-38G>A	NP_001275503.1:n.809-38G>A
NM_001288575.1:c.461-38G>A	NP_001275504.1:n.461-38G>A
NM_172058.3:c.827-38G>A	NP_742055.1:n.827-38G>A
NM_172059.3:c.812-38G>A	NP_742056.1:n.812-38G>A
NM_172060.3:c.728-38G>A	NP_742057.1:n.728-38G>A
XM_011517481.1:c.899-38G>A	XP_011515783.1:n.899-38G>A
XM_011517482.1:c.914-38G>A	XP_011515784.1:n.914-38G>A
XM_011517483.1:c.824-38G>A	XP_011515785.1:n.824-38G>A
XM_011517484.1:c.812-38G>A	XP_011515786.1:n.812-38G>A
XM_011517485.1:c.827-38G>A	XP_011515787.1:n.827-38G>A
XM_011517486.1:c.827-38G>A	XP_011515788.1:n.827-38G>A
XM_011517487.1:c.827-38G>A	XP_011515789.1:n.827-38G>A
XM_011517488.1:c.824-38G>A	XP_011515790.1:n.824-38G>A
XM_011517489.1:c.764-38G>A	XP_011515791.1:n.764-38G>A
XM_011517490.1:c.728-38G>A	XP_011515792.1:n.728-38G>A
XM_011517491.1:c.728-38G>A	XP_011515793.1:n.728-38G>A
XM_011517492.1:c.476-38G>A	XP_011515794.1:n.476-38G>A
NM_172059.4:c.899-38G>A	NP_742056.2:n.899-38G>A
XM_011517483.2:c.824-38G>A	XP_011515785.1:n.824-38G>A
XM_011517484.3:c.899-38G>A	XP_011515786.2:n.899-38G>A
XM_017013201.1:c.914-38G>A	XP_016868690.1:n.914-38G>A
XM_017013202.1:c.914-38G>A	XP_016868691.1:n.914-38G>A
XM_017013203.2:c.911-38G>A	XP_016868692.1:n.911-38G>A
XM_017013204.2:c.896-38G>A	XP_016868693.1:n.896-38G>A
XM_017013205.2:c.914-38G>A	XP_016868694.1:n.914-38G>A
XM_017013206.1:c.827-38G>A	XP_016868695.1:n.827-38G>A
XM_017013207.2:c.914-38G>A	XP_016868696.1:n.914-38G>A
XM_017013208.2:c.824-38G>A	XP_016868697.1:n.824-38G>A
XM_017013210.2:c.896-38G>A	XP_016868699.1:n.896-38G>A
XM_017013211.2:c.764-38G>A	XP_016868700.1:n.764-38G>A
XM_017013212.2:c.728-38G>A	XP_016868701.1:n.728-38G>A
XM_017013213.1:c.476-38G>A	XP_016868702.1:n.476-38G>A
NM_000503.6:c.827-38G>A MANE Select	NP_000494.2:n.827-38G>A
NM_001288574.2:c.809-38G>A	NP_001275503.1:n.809-38G>A
NM_001288575.2:c.461-38G>A	NP_001275504.1:n.461-38G>A
NM_001370333.1:c.914-38G>A	NP_001357262.1:n.914-38G>A
NM_001370334.1:c.827-38G>A	NP_001357263.1:n.827-38G>A
NM_001370335.1:c.827-38G>A	NP_001357264.1:n.827-38G>A
NM_001370336.1:c.896-38G>A	NP_001357265.1:n.896-38G>A
NM_172058.4:c.827-38G>A	NP_742055.1:n.827-38G>A
NM_172059.5:c.899-38G>A	NP_742056.2:n.899-38G>A