Canonical Allele Identifier: CA371467243

Gene: EYA1

Linked Data

• dbSNP Id: rs1296125164
• gnomAD v2: 8-72211366-T-C
• gnomAD v3: 8-71299131-T-C
• gnomAD v4: 8-71299131-T-C
• MyVariant Identifiers: chr8:g.72211366T>C (hg19) ; chr8:g.71299131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71299131T>C , CM000670.2:g.71299131T>C	GRCh38
NC_000008.10:g.72211366T>C , CM000670.1:g.72211366T>C	GRCh37
NC_000008.9:g.72373920T>C	NCBI36
NG_011735.2:g.68102A>G
NG_011735.3:g.254000A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.742A>G MANE Select	ENSP00000342626.3:p.Thr248Ala
ENST00000388741.7:c.640A>G	ENSP00000373393.2:p.Thr214Ala
ENST00000419131.6:c.727A>G	ENSP00000410176.1:p.Thr243Ala
ENST00000465115.6:c.*21A>G	ENSP00000428391.1:n.*21A>G
ENST00000496494.6:n.1205A>G
ENST00000642391.1:c.*509A>G	ENSP00000496700.1:n.*509A>G
ENST00000643681.1:c.829A>G	ENSP00000495390.1:p.Thr277Ala
ENST00000644229.1:c.814A>G	ENSP00000494568.1:p.Thr272Ala
ENST00000644712.1:c.811A>G	ENSP00000496188.1:p.Thr271Ala
ENST00000645793.1:c.742A>G	ENSP00000496255.1:p.Thr248Ala
ENST00000647540.1:c.742A>G	ENSP00000494438.1:p.Thr248Ala
ENST00000303824.11:c.724A>G	ENSP00000303221.7:p.Thr242Ala
ENST00000340726.7:c.742A>G	ENSP00000342626.3:p.Thr248Ala
ENST00000388740.4:c.643A>G	ENSP00000373392.3:p.Thr215Ala
ENST00000388741.6:c.640A>G	ENSP00000373393.2:p.Thr214Ala
ENST00000388742.8:c.742A>G	ENSP00000373394.4:p.Thr248Ala
ENST00000388743.6:c.739A>G	ENSP00000373395.2:p.Thr247Ala
ENST00000419131.5:c.727A>G	ENSP00000410176.1:p.Thr243Ala
ENST00000465115.5:c.*21A>G	ENSP00000428391.1:n.*21A>G
ENST00000496494.5:n.1237A>G
NM_000503.5:c.742A>G	NP_000494.2:p.Thr248Ala
NM_001288574.1:c.724A>G	NP_001275503.1:p.Thr242Ala
NM_001288575.1:c.376A>G	NP_001275504.1:p.Thr126Ala
NM_172058.3:c.742A>G	NP_742055.1:p.Thr248Ala
NM_172059.3:c.727A>G	NP_742056.1:p.Thr243Ala
NM_172060.3:c.643A>G	NP_742057.1:p.Thr215Ala
XM_011517481.1:c.814A>G	XP_011515783.1:p.Thr272Ala
XM_011517482.1:c.829A>G	XP_011515784.1:p.Thr277Ala
XM_011517483.1:c.739A>G	XP_011515785.1:p.Thr247Ala
XM_011517484.1:c.727A>G	XP_011515786.1:p.Thr243Ala
XM_011517485.1:c.742A>G	XP_011515787.1:p.Thr248Ala
XM_011517486.1:c.742A>G	XP_011515788.1:p.Thr248Ala
XM_011517487.1:c.742A>G	XP_011515789.1:p.Thr248Ala
XM_011517488.1:c.739A>G	XP_011515790.1:p.Thr247Ala
XM_011517489.1:c.679A>G	XP_011515791.1:p.Thr227Ala
XM_011517490.1:c.643A>G	XP_011515792.1:p.Thr215Ala
XM_011517491.1:c.643A>G	XP_011515793.1:p.Thr215Ala
XM_011517492.1:c.391A>G	XP_011515794.1:p.Thr131Ala
NM_172059.4:c.814A>G	NP_742056.2:p.Thr272Ala
XM_011517483.2:c.739A>G	XP_011515785.1:p.Thr247Ala
XM_011517484.3:c.814A>G	XP_011515786.2:p.Thr272Ala
XM_017013201.1:c.829A>G	XP_016868690.1:p.Thr277Ala
XM_017013202.1:c.829A>G	XP_016868691.1:p.Thr277Ala
XM_017013203.2:c.826A>G	XP_016868692.1:p.Thr276Ala
XM_017013204.2:c.811A>G	XP_016868693.1:p.Thr271Ala
XM_017013205.2:c.829A>G	XP_016868694.1:p.Thr277Ala
XM_017013206.1:c.742A>G	XP_016868695.1:p.Thr248Ala
XM_017013207.2:c.829A>G	XP_016868696.1:p.Thr277Ala
XM_017013208.2:c.739A>G	XP_016868697.1:p.Thr247Ala
XM_017013210.2:c.811A>G	XP_016868699.1:p.Thr271Ala
XM_017013211.2:c.679A>G	XP_016868700.1:p.Thr227Ala
XM_017013212.2:c.643A>G	XP_016868701.1:p.Thr215Ala
XM_017013213.1:c.391A>G	XP_016868702.1:p.Thr131Ala
NM_000503.6:c.742A>G MANE Select	NP_000494.2:p.Thr248Ala
NM_001288574.2:c.724A>G	NP_001275503.1:p.Thr242Ala
NM_001288575.2:c.376A>G	NP_001275504.1:p.Thr126Ala
NM_001370333.1:c.829A>G	NP_001357262.1:p.Thr277Ala
NM_001370334.1:c.742A>G	NP_001357263.1:p.Thr248Ala
NM_001370335.1:c.742A>G	NP_001357264.1:p.Thr248Ala
NM_001370336.1:c.811A>G	NP_001357265.1:p.Thr271Ala
NM_172058.4:c.742A>G	NP_742055.1:p.Thr248Ala
NM_172059.5:c.814A>G	NP_742056.2:p.Thr272Ala