Canonical Allele Identifier: CA371467814

Gene: EYA1

Linked Data

• gnomAD v4: 8-71244667-C-T
• MyVariant Identifiers: chr8:g.72156902C>T (hg19) ; chr8:g.71244667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71244667C>T , CM000670.2:g.71244667C>T	GRCh38
NC_000008.10:g.72156902C>T , CM000670.1:g.72156902C>T	GRCh37
NC_000008.9:g.72319456C>T	NCBI36
NG_011735.2:g.122566G>A
NG_011735.3:g.308464G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1076G>A MANE Select	ENSP00000342626.3:p.Gly359Glu
ENST00000388741.7:c.974G>A	ENSP00000373393.2:p.Gly325Glu
ENST00000419131.6:c.1035+25073G>A	ENSP00000410176.1:n.1035+25073G>A
ENST00000465115.6:c.*355G>A	ENSP00000428391.1:n.*355G>A
ENST00000493349.2:c.312G>A
ENST00000496494.6:n.1539G>A
ENST00000642391.1:c.*817+25073G>A	ENSP00000496700.1:n.*817+25073G>A
ENST00000643681.1:c.1163G>A	ENSP00000495390.1:p.Gly388Glu
ENST00000644229.1:c.1122+25073G>A	ENSP00000494568.1:n.1122+25073G>A
ENST00000644424.1:n.146G>A
ENST00000644712.1:c.1119+25073G>A	ENSP00000496188.1:n.1119+25073G>A
ENST00000645793.1:c.1076G>A	ENSP00000496255.1:p.Gly359Glu
ENST00000647540.1:c.1076G>A	ENSP00000494438.1:p.Gly359Glu
ENST00000303824.11:c.1058G>A	ENSP00000303221.7:p.Gly353Glu
ENST00000340726.7:c.1076G>A	ENSP00000342626.3:p.Gly359Glu
ENST00000388740.4:c.977G>A	ENSP00000373392.3:p.Gly326Glu
ENST00000388741.6:c.974G>A	ENSP00000373393.2:p.Gly325Glu
ENST00000388742.8:c.1076G>A	ENSP00000373394.4:p.Gly359Glu
ENST00000388743.6:c.1073G>A	ENSP00000373395.2:p.Gly358Glu
ENST00000419131.5:c.1035+25073G>A	ENSP00000410176.1:n.1035+25073G>A
ENST00000465115.5:c.*355G>A	ENSP00000428391.1:n.*355G>A
ENST00000493349.1:c.-8G>A	ENSP00000428517.1:n.-8G>A
ENST00000496494.5:n.1571G>A
NM_000503.5:c.1076G>A	NP_000494.2:p.Gly359Glu
NM_001288574.1:c.1058G>A	NP_001275503.1:p.Gly353Glu
NM_001288575.1:c.710G>A	NP_001275504.1:p.Gly237Glu
NM_172058.3:c.1076G>A	NP_742055.1:p.Gly359Glu
NM_172059.3:c.1035+25073G>A	NP_742056.1:n.1035+25073G>A
NM_172060.3:c.977G>A	NP_742057.1:p.Gly326Glu
XM_011517481.1:c.1148G>A	XP_011515783.1:p.Gly383Glu
XM_011517482.1:c.1163G>A	XP_011515784.1:p.Gly388Glu
XM_011517483.1:c.1073G>A	XP_011515785.1:p.Gly358Glu
XM_011517484.1:c.1061G>A	XP_011515786.1:p.Gly354Glu
XM_011517485.1:c.1076G>A	XP_011515787.1:p.Gly359Glu
XM_011517486.1:c.1076G>A	XP_011515788.1:p.Gly359Glu
XM_011517487.1:c.1076G>A	XP_011515789.1:p.Gly359Glu
XM_011517488.1:c.1073G>A	XP_011515790.1:p.Gly358Glu
XM_011517489.1:c.1013G>A	XP_011515791.1:p.Gly338Glu
XM_011517490.1:c.977G>A	XP_011515792.1:p.Gly326Glu
XM_011517491.1:c.977G>A	XP_011515793.1:p.Gly326Glu
XM_011517492.1:c.725G>A	XP_011515794.1:p.Gly242Glu
NM_172059.4:c.1122+25073G>A	NP_742056.2:n.1122+25073G>A
XM_011517483.2:c.1073G>A	XP_011515785.1:p.Gly358Glu
XM_011517484.3:c.1148G>A	XP_011515786.2:p.Gly383Glu
XM_017013201.1:c.1163G>A	XP_016868690.1:p.Gly388Glu
XM_017013202.1:c.1163G>A	XP_016868691.1:p.Gly388Glu
XM_017013203.2:c.1160G>A	XP_016868692.1:p.Gly387Glu
XM_017013204.2:c.1145G>A	XP_016868693.1:p.Gly382Glu
XM_017013205.2:c.1163G>A	XP_016868694.1:p.Gly388Glu
XM_017013206.1:c.1076G>A	XP_016868695.1:p.Gly359Glu
XM_017013207.2:c.1137+25073G>A	XP_016868696.1:n.1137+25073G>A
XM_017013208.2:c.1073G>A	XP_016868697.1:p.Gly358Glu
XM_017013210.2:c.1119+25073G>A	XP_016868699.1:n.1119+25073G>A
XM_017013211.2:c.1013G>A	XP_016868700.1:p.Gly338Glu
XM_017013212.2:c.977G>A	XP_016868701.1:p.Gly326Glu
XM_017013213.1:c.725G>A	XP_016868702.1:p.Gly242Glu
NM_000503.6:c.1076G>A MANE Select	NP_000494.2:p.Gly359Glu
NM_001288574.2:c.1058G>A	NP_001275503.1:p.Gly353Glu
NM_001288575.2:c.710G>A	NP_001275504.1:p.Gly237Glu
NM_001370333.1:c.1163G>A	NP_001357262.1:p.Gly388Glu
NM_001370334.1:c.1076G>A	NP_001357263.1:p.Gly359Glu
NM_001370335.1:c.1076G>A	NP_001357264.1:p.Gly359Glu
NM_001370336.1:c.1119+25073G>A	NP_001357265.1:n.1119+25073G>A
NM_172058.4:c.1076G>A	NP_742055.1:p.Gly359Glu
NM_172059.5:c.1122+25073G>A	NP_742056.2:n.1122+25073G>A