Canonical Allele Identifier: CA142603

Gene: EYA1

Linked Data

• ClinVar Variation Id: 48107
• ClinVar RCV Id: RCV000041393 ; RCV000370365 ; RCV000329591 ; RCV001520614 ; RCV001636631 ; RCV001701584
• dbSNP Id: rs10103397
• ExAC: 8:72111599 A / G
• gnomAD v2: 8-72111599-A-G
• gnomAD v3: 8-71199364-A-G
• gnomAD v4: 8-71199364-A-G
• MyVariant Identifiers: chr8:g.72111599A>G (hg19) ; chr8:g.71199364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71199364A>G , CM000670.2:g.71199364A>G	GRCh38
NC_000008.10:g.72111599A>G , CM000670.1:g.72111599A>G	GRCh37
NC_000008.9:g.72274153A>G	NCBI36
NG_011735.2:g.167869T>C
NG_011735.3:g.353767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1755T>C MANE Select	ENSP00000342626.3:p.His585=
ENST00000388741.7:c.1653T>C	ENSP00000373393.2:p.His551=
ENST00000419131.6:c.1650T>C	ENSP00000410176.1:p.His550=
ENST00000465115.6:c.*1034T>C	ENSP00000428391.1:n.*1034T>C
ENST00000496494.6:n.2218T>C
ENST00000642391.1:c.*1432T>C	ENSP00000496700.1:n.*1432T>C
ENST00000643681.1:c.1842T>C	ENSP00000495390.1:p.His614=
ENST00000644229.1:c.1737T>C	ENSP00000494568.1:p.His579=
ENST00000644424.1:n.825T>C
ENST00000644712.1:c.1734T>C	ENSP00000496188.1:p.His578=
ENST00000645793.1:c.1755T>C	ENSP00000496255.1:p.His585=
ENST00000647540.1:c.1755T>C	ENSP00000494438.1:p.His585=
ENST00000303824.11:c.1737T>C	ENSP00000303221.7:p.His579=
ENST00000340726.7:c.1755T>C	ENSP00000342626.3:p.His585=
ENST00000388740.4:c.1656T>C	ENSP00000373392.3:p.His552=
ENST00000388741.6:c.1653T>C	ENSP00000373393.2:p.His551=
ENST00000388742.8:c.1755T>C	ENSP00000373394.4:p.His585=
ENST00000388743.6:c.1752T>C	ENSP00000373395.2:p.His584=
ENST00000419131.5:c.1650T>C	ENSP00000410176.1:p.His550=
ENST00000465115.5:c.*1034T>C	ENSP00000428391.1:n.*1034T>C
ENST00000496494.5:n.2250T>C
NM_000503.5:c.1755T>C	NP_000494.2:p.His585=
NM_001288574.1:c.1737T>C	NP_001275503.1:p.His579=
NM_001288575.1:c.1389T>C	NP_001275504.1:p.His463=
NM_172058.3:c.1755T>C	NP_742055.1:p.His585=
NM_172059.3:c.1650T>C	NP_742056.1:p.His550=
NM_172060.3:c.1656T>C	NP_742057.1:p.His552=
XM_011517481.1:c.1828T>C	XP_011515783.1:p.Cys610Arg
XM_011517482.1:c.1843T>C	XP_011515784.1:p.Cys615Arg
XM_011517483.1:c.1752T>C	XP_011515785.1:p.His584=
XM_011517484.1:c.1740T>C	XP_011515786.1:p.His580=
XM_011517485.1:c.1756T>C	XP_011515787.1:p.Cys586Arg
XM_011517486.1:c.1756T>C	XP_011515788.1:p.Cys586Arg
XM_011517487.1:c.1756T>C	XP_011515789.1:p.Cys586Arg
XM_011517488.1:c.1753T>C	XP_011515790.1:p.Cys585Arg
XM_011517489.1:c.1693T>C	XP_011515791.1:p.Cys565Arg
XM_011517490.1:c.1657T>C	XP_011515792.1:p.Cys553Arg
XM_011517491.1:c.1657T>C	XP_011515793.1:p.Cys553Arg
XM_011517492.1:c.1405T>C	XP_011515794.1:p.Cys469Arg
NM_172059.4:c.1737T>C	NP_742056.2:p.His579=
XM_011517483.2:c.1752T>C	XP_011515785.1:p.His584=
XM_011517484.3:c.1827T>C	XP_011515786.2:p.His609=
XM_017013201.1:c.1842T>C	XP_016868690.1:p.His614=
XM_017013202.1:c.1842T>C	XP_016868691.1:p.His614=
XM_017013203.2:c.1839T>C	XP_016868692.1:p.His613=
XM_017013204.2:c.1824T>C	XP_016868693.1:p.His608=
XM_017013206.1:c.1755T>C	XP_016868695.1:p.His585=
XM_017013207.2:c.1752T>C	XP_016868696.1:p.His584=
XM_017013208.2:c.1752T>C	XP_016868697.1:p.His584=
XM_017013210.2:c.1734T>C	XP_016868699.1:p.His578=
XM_017013211.2:c.1692T>C	XP_016868700.1:p.His564=
XM_017013212.2:c.1656T>C	XP_016868701.1:p.His552=
XM_017013213.1:c.1404T>C	XP_016868702.1:p.His468=
XR_001745954.1:n.5008+19A>G
NM_000503.6:c.1755T>C MANE Select	NP_000494.2:p.His585=
NM_001288574.2:c.1737T>C	NP_001275503.1:p.His579=
NM_001288575.2:c.1389T>C	NP_001275504.1:p.His463=
NM_001370333.1:c.1842T>C	NP_001357262.1:p.His614=
NM_001370334.1:c.1755T>C	NP_001357263.1:p.His585=
NM_001370335.1:c.1755T>C	NP_001357264.1:p.His585=
NM_001370336.1:c.1734T>C	NP_001357265.1:p.His578=
NM_172058.4:c.1755T>C	NP_742055.1:p.His585=
NM_172059.5:c.1737T>C	NP_742056.2:p.His579=