Canonical Allele Identifier: CA10625778

Gene: EYA1

Linked Data

• ClinVar Variation Id: 363683
• ClinVar RCV Id: RCV000299106 ; RCV000337642
• dbSNP Id: rs886063099
• gnomAD v2: 8-72274416-G-T
• gnomAD v3: 8-71362181-G-T
• gnomAD v4: 8-71362181-G-T
• MyVariant Identifiers: chr8:g.72274416G>T (hg19) ; chr8:g.71362181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71362181G>T , CM000670.2:g.71362181G>T	GRCh38
NC_000008.10:g.72274416G>T , CM000670.1:g.72274416G>T	GRCh37
NC_000008.9:g.72436970G>T	NCBI36
NG_011735.2:g.5052C>A
NG_011735.3:g.190950C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643681.1:c.34-5670C>A	ENSP00000495390.1:n.34-5670C>A
ENST00000644229.1:c.34-5670C>A	ENSP00000494568.1:n.34-5670C>A
ENST00000644712.1:c.34-5670C>A	ENSP00000496188.1:n.34-5670C>A
ENST00000645793.1:c.-54-5670C>A	ENSP00000496255.1:n.-54-5670C>A
ENST00000647540.1:c.-54-5670C>A	ENSP00000494438.1:n.-54-5670C>A
ENST00000340726.7:c.-589C>A	ENSP00000342626.3:n.-589C>A
NM_000503.5:c.-589C>A	NP_000494.2:n.-589C>A
NM_001288574.1:c.-589C>A	NP_001275503.1:n.-589C>A
NM_001288575.1:c.-873C>A	NP_001275504.1:n.-873C>A
XM_011517481.1:c.22-5670C>A	XP_011515783.1:n.22-5670C>A
XM_011517482.1:c.34-5670C>A	XP_011515784.1:n.34-5670C>A
XM_011517485.1:c.-54-5670C>A	XP_011515787.1:n.-54-5670C>A
XM_011517486.1:c.-54-5670C>A	XP_011515788.1:n.-54-5670C>A
XM_011517487.1:c.-54-5670C>A	XP_011515789.1:n.-54-5670C>A
XM_011517489.1:c.12-5670C>A	XP_011515791.1:n.12-5670C>A
XM_011517491.1:c.-25-5670C>A	XP_011515793.1:n.-25-5670C>A
NM_172059.4:c.34-5670C>A	NP_742056.2:n.34-5670C>A
XM_011517484.3:c.34-5670C>A	XP_011515786.2:n.34-5670C>A
XM_017013201.1:c.34-5670C>A	XP_016868690.1:n.34-5670C>A
XM_017013202.1:c.34-5670C>A	XP_016868691.1:n.34-5670C>A
XM_017013203.2:c.34-5670C>A	XP_016868692.1:n.34-5670C>A
XM_017013204.2:c.34-5670C>A	XP_016868693.1:n.34-5670C>A
XM_017013205.2:c.34-5670C>A	XP_016868694.1:n.34-5670C>A
XM_017013206.1:c.-54-5670C>A	XP_016868695.1:n.-54-5670C>A
XM_017013207.2:c.34-5670C>A	XP_016868696.1:n.34-5670C>A
XM_017013210.2:c.34-5670C>A	XP_016868699.1:n.34-5670C>A
XM_017013211.2:c.12-5670C>A	XP_016868700.1:n.12-5670C>A
XM_017013212.2:c.-560C>A	XP_016868701.1:n.-560C>A
NM_001370333.1:c.34-5670C>A	NP_001357262.1:n.34-5670C>A
NM_001370334.1:c.-54-5670C>A	NP_001357263.1:n.-54-5670C>A
NM_001370335.1:c.-54-5670C>A	NP_001357264.1:n.-54-5670C>A
NM_001370336.1:c.34-5670C>A	NP_001357265.1:n.34-5670C>A
NM_172059.5:c.34-5670C>A	NP_742056.2:n.34-5670C>A