Canonical Allele Identifier: CA10631542

Gene: EYA1

Linked Data

• ClinVar Variation Id: 363635
• ClinVar RCV Id: RCV000265112 ; RCV000301652
• dbSNP Id: rs775498240
• gnomAD v2: 8-72110727-C-T
• gnomAD v3: 8-71198492-C-T
• gnomAD v4: 8-71198492-C-T
• MyVariant Identifiers: chr8:g.72110727C>T (hg19) ; chr8:g.71198492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71198492C>T , CM000670.2:g.71198492C>T	GRCh38
NC_000008.10:g.72110727C>T , CM000670.1:g.72110727C>T	GRCh37
NC_000008.9:g.72273281C>T	NCBI36
NG_011735.2:g.168741G>A
NG_011735.3:g.354639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.*848G>A MANE Select	ENSP00000342626.3:n.*848G>A
ENST00000419131.6:c.*848G>A	ENSP00000410176.1:n.*848G>A
ENST00000465115.6:c.*1906G>A	ENSP00000428391.1:n.*1906G>A
ENST00000642391.1:c.*2304G>A	ENSP00000496700.1:n.*2304G>A
ENST00000643681.1:c.*848G>A	ENSP00000495390.1:n.*848G>A
ENST00000644229.1:c.*848G>A	ENSP00000494568.1:n.*848G>A
ENST00000644424.1:n.1697G>A
ENST00000644712.1:c.*848G>A	ENSP00000496188.1:n.*848G>A
ENST00000645793.1:c.*848G>A	ENSP00000496255.1:n.*848G>A
ENST00000647540.1:c.*848G>A	ENSP00000494438.1:n.*848G>A
ENST00000303824.11:c.*848G>A	ENSP00000303221.7:n.*848G>A
ENST00000340726.7:c.*848G>A	ENSP00000342626.3:n.*848G>A
ENST00000388740.4:c.*848G>A	ENSP00000373392.3:n.*848G>A
ENST00000388741.6:c.*848G>A	ENSP00000373393.2:n.*848G>A
ENST00000388742.8:c.*848G>A	ENSP00000373394.4:n.*848G>A
ENST00000465115.5:c.*1906G>A	ENSP00000428391.1:n.*1906G>A
NM_000503.5:c.*848G>A	NP_000494.2:n.*848G>A
NM_001288574.1:c.*848G>A	NP_001275503.1:n.*848G>A
NM_001288575.1:c.*848G>A	NP_001275504.1:n.*848G>A
NM_172058.3:c.*848G>A	NP_742055.1:n.*848G>A
NM_172059.3:c.*848G>A	NP_742056.1:n.*848G>A
NM_172060.3:c.*848G>A	NP_742057.1:n.*848G>A
XM_011517481.1:c.*735G>A	XP_011515783.1:n.*735G>A
XM_011517482.1:c.*735G>A	XP_011515784.1:n.*735G>A
XM_011517483.1:c.*848G>A	XP_011515785.1:n.*848G>A
XM_011517484.1:c.*848G>A	XP_011515786.1:n.*848G>A
XM_011517485.1:c.*735G>A	XP_011515787.1:n.*735G>A
XM_011517486.1:c.*735G>A	XP_011515788.1:n.*735G>A
XM_011517487.1:c.*735G>A	XP_011515789.1:n.*735G>A
XM_011517488.1:c.*735G>A	XP_011515790.1:n.*735G>A
XM_011517489.1:c.*735G>A	XP_011515791.1:n.*735G>A
XM_011517490.1:c.*735G>A	XP_011515792.1:n.*735G>A
XM_011517491.1:c.*735G>A	XP_011515793.1:n.*735G>A
XM_011517492.1:c.*735G>A	XP_011515794.1:n.*735G>A
XR_929038.1:n.180-648C>T
NM_172059.4:c.*848G>A	NP_742056.2:n.*848G>A
XM_011517483.2:c.*848G>A	XP_011515785.1:n.*848G>A
XM_011517484.3:c.*848G>A	XP_011515786.2:n.*848G>A
XM_017013201.1:c.*848G>A	XP_016868690.1:n.*848G>A
XM_017013202.1:c.*848G>A	XP_016868691.1:n.*848G>A
XM_017013203.2:c.*848G>A	XP_016868692.1:n.*848G>A
XM_017013204.2:c.*848G>A	XP_016868693.1:n.*848G>A
XM_017013206.1:c.*848G>A	XP_016868695.1:n.*848G>A
XM_017013207.2:c.*848G>A	XP_016868696.1:n.*848G>A
XM_017013208.2:c.*848G>A	XP_016868697.1:n.*848G>A
XM_017013210.2:c.*848G>A	XP_016868699.1:n.*848G>A
XM_017013211.2:c.*848G>A	XP_016868700.1:n.*848G>A
XM_017013212.2:c.*848G>A	XP_016868701.1:n.*848G>A
XM_017013213.1:c.*848G>A	XP_016868702.1:n.*848G>A
XR_001745954.1:n.4803-648C>T
NM_000503.6:c.*848G>A MANE Select	NP_000494.2:n.*848G>A
NM_001288574.2:c.*848G>A	NP_001275503.1:n.*848G>A
NM_001288575.2:c.*848G>A	NP_001275504.1:n.*848G>A
NM_001370333.1:c.*848G>A	NP_001357262.1:n.*848G>A
NM_001370334.1:c.*848G>A	NP_001357263.1:n.*848G>A
NM_001370335.1:c.*848G>A	NP_001357264.1:n.*848G>A
NM_001370336.1:c.*848G>A	NP_001357265.1:n.*848G>A
NM_172058.4:c.*848G>A	NP_742055.1:n.*848G>A
NM_172059.5:c.*848G>A	NP_742056.2:n.*848G>A