Canonical Allele Identifier: CA16338494
Gene: EYA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71535183T>G , CM000670.2:g.71535183T>G GRCh38
NC_000008.10:g.72447418T>G , CM000670.1:g.72447418T>G GRCh37
NC_000008.9:g.72609972T>G NCBI36
NG_011735.3:g.17948A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000518177.2:n.383+561A>C
ENST00000519927.5:n.429+561A>C
ENST00000523987.4:n.248+561A>C
ENST00000643681.1:c.33+561A>C ENSP00000495390.1:n.33+561A>C
ENST00000644229.1:c.33+561A>C ENSP00000494568.1:n.33+561A>C
ENST00000644712.1:c.33+561A>C ENSP00000496188.1:n.33+561A>C
ENST00000645793.1:c.-344+561A>C ENSP00000496255.1:n.-344+561A>C
ENST00000647540.1:c.-129+561A>C ENSP00000494438.1:n.-129+561A>C
XM_011517482.1:c.33+561A>C XP_011515784.1:n.33+561A>C
XM_011517485.1:c.-129+561A>C XP_011515787.1:n.-129+561A>C
XM_011517489.1:c.11+561A>C XP_011515791.1:n.11+561A>C
XM_011517491.1:c.-100+561A>C XP_011515793.1:n.-100+561A>C
NM_172059.4:c.33+561A>C NP_742056.2:n.33+561A>C
XM_011517484.3:c.33+561A>C XP_011515786.2:n.33+561A>C
XM_017013201.1:c.33+561A>C XP_016868690.1:n.33+561A>C
XM_017013202.1:c.33+561A>C XP_016868691.1:n.33+561A>C
XM_017013203.2:c.33+561A>C XP_016868692.1:n.33+561A>C
XM_017013204.2:c.33+561A>C XP_016868693.1:n.33+561A>C
XM_017013205.2:c.33+561A>C XP_016868694.1:n.33+561A>C
XM_017013206.1:c.-129+561A>C XP_016868695.1:n.-129+561A>C
XM_017013207.2:c.33+561A>C XP_016868696.1:n.33+561A>C
XM_017013210.2:c.33+561A>C XP_016868699.1:n.33+561A>C
XM_017013211.2:c.11+561A>C XP_016868700.1:n.11+561A>C
NM_001370333.1:c.33+561A>C NP_001357262.1:n.33+561A>C
NM_001370334.1:c.-129+561A>C NP_001357263.1:n.-129+561A>C
NM_001370335.1:c.-344+561A>C NP_001357264.1:n.-344+561A>C
NM_001370336.1:c.33+561A>C NP_001357265.1:n.33+561A>C
NM_172059.5:c.33+561A>C NP_742056.2:n.33+561A>C
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