Canonical Allele Identifier: CA2687602601

Gene: EYA1

Linked Data

• gnomAD v4: 8-71362098-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71362098C>G , CM000670.2:g.71362098C>G	GRCh38
NC_000008.10:g.72274333C>G , CM000670.1:g.72274333C>G	GRCh37
NC_000008.9:g.72436887C>G	NCBI36
NG_011735.2:g.5135G>C
NG_011735.3:g.191033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388741.7:c.-477G>C	ENSP00000373393.2:n.-477G>C
ENST00000643681.1:c.34-5587G>C	ENSP00000495390.1:n.34-5587G>C
ENST00000644229.1:c.34-5587G>C	ENSP00000494568.1:n.34-5587G>C
ENST00000644712.1:c.34-5587G>C	ENSP00000496188.1:n.34-5587G>C
ENST00000645793.1:c.-54-5587G>C	ENSP00000496255.1:n.-54-5587G>C
ENST00000647540.1:c.-54-5587G>C	ENSP00000494438.1:n.-54-5587G>C
ENST00000340726.7:c.-506G>C	ENSP00000342626.3:n.-506G>C
ENST00000388741.6:c.-477G>C	ENSP00000373393.2:n.-477G>C
NM_000503.5:c.-506G>C	NP_000494.2:n.-506G>C
NM_001288574.1:c.-506G>C	NP_001275503.1:n.-506G>C
NM_001288575.1:c.-790G>C	NP_001275504.1:n.-790G>C
XM_011517481.1:c.22-5587G>C	XP_011515783.1:n.22-5587G>C
XM_011517482.1:c.34-5587G>C	XP_011515784.1:n.34-5587G>C
XM_011517485.1:c.-54-5587G>C	XP_011515787.1:n.-54-5587G>C
XM_011517486.1:c.-54-5587G>C	XP_011515788.1:n.-54-5587G>C
XM_011517487.1:c.-54-5587G>C	XP_011515789.1:n.-54-5587G>C
XM_011517488.1:c.-506G>C	XP_011515790.1:n.-506G>C
XM_011517489.1:c.12-5587G>C	XP_011515791.1:n.12-5587G>C
XM_011517490.1:c.-477G>C	XP_011515792.1:n.-477G>C
XM_011517491.1:c.-25-5587G>C	XP_011515793.1:n.-25-5587G>C
NM_172059.4:c.34-5587G>C	NP_742056.2:n.34-5587G>C
XM_011517484.3:c.34-5587G>C	XP_011515786.2:n.34-5587G>C
XM_017013201.1:c.34-5587G>C	XP_016868690.1:n.34-5587G>C
XM_017013202.1:c.34-5587G>C	XP_016868691.1:n.34-5587G>C
XM_017013203.2:c.34-5587G>C	XP_016868692.1:n.34-5587G>C
XM_017013204.2:c.34-5587G>C	XP_016868693.1:n.34-5587G>C
XM_017013205.2:c.34-5587G>C	XP_016868694.1:n.34-5587G>C
XM_017013206.1:c.-54-5587G>C	XP_016868695.1:n.-54-5587G>C
XM_017013207.2:c.34-5587G>C	XP_016868696.1:n.34-5587G>C
XM_017013208.2:c.-506G>C	XP_016868697.1:n.-506G>C
XM_017013210.2:c.34-5587G>C	XP_016868699.1:n.34-5587G>C
XM_017013211.2:c.12-5587G>C	XP_016868700.1:n.12-5587G>C
XM_017013212.2:c.-477G>C	XP_016868701.1:n.-477G>C
NM_001370333.1:c.34-5587G>C	NP_001357262.1:n.34-5587G>C
NM_001370334.1:c.-54-5587G>C	NP_001357263.1:n.-54-5587G>C
NM_001370335.1:c.-54-5587G>C	NP_001357264.1:n.-54-5587G>C
NM_001370336.1:c.34-5587G>C	NP_001357265.1:n.34-5587G>C
NM_172059.5:c.34-5587G>C	NP_742056.2:n.34-5587G>C