Canonical Allele Identifier: CA378718183
Gene: EBF3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.129840922T>A , CM000672.2:g.129840922T>A GRCh38
NC_000010.10:g.131639186T>A , CM000672.1:g.131639186T>A GRCh37
NC_000010.9:g.131529176T>A NCBI36
NG_030038.1:g.127906A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355311.10:c.1483A>T ENSP00000347463.4:p.Ser495Cys
ENST00000368648.8:c.1456A>T ENSP00000357637.3:p.Ser486Cys
ENST00000440978.2:c.1483A>T MANE Select ENSP00000387543.2:p.Ser495Cys
ENST00000675373.1:n.1128A>T
ENST00000355311.9:c.1483A>T ENSP00000347463.4:p.Ser495Cys
ENST00000368648.7:c.1456A>T ENSP00000357637.3:p.Ser486Cys
ENST00000440978.1:c.167A>T
NM_001005463.2:c.1456A>T NP_001005463.1:p.Ser486Cys
XM_005252667.2:c.1456A>T XP_005252724.1:p.Ser486Cys
XM_005252668.2:c.1483A>T XP_005252725.1:p.Ser495Cys
XM_005252669.2:c.1456A>T XP_005252726.1:p.Ser486Cys
XM_006717739.2:c.1483A>T XP_006717802.1:p.Ser495Cys
XM_006717740.2:c.1483A>T XP_006717803.1:p.Ser495Cys
XM_006717741.2:c.1483A>T XP_006717804.1:p.Ser495Cys
XM_006717742.2:c.1483A>T XP_006717805.1:p.Ser495Cys
XM_006717743.2:c.1483A>T XP_006717806.1:p.Ser495Cys
XM_006717744.2:c.1373-588A>T XP_006717807.1:n.1373-588A>T
XM_011539574.1:c.1198A>T XP_011537876.1:p.Ser400Cys
XM_011539575.1:c.967A>T XP_011537877.1:p.Ser323Cys
XM_005252667.3:c.1456A>T XP_005252724.1:p.Ser486Cys
XM_005252668.3:c.1483A>T XP_005252725.1:p.Ser495Cys
XM_005252669.3:c.1456A>T XP_005252726.1:p.Ser486Cys
XM_006717739.3:c.1483A>T XP_006717802.1:p.Ser495Cys
XM_006717740.3:c.1483A>T XP_006717803.1:p.Ser495Cys
XM_006717741.3:c.1483A>T XP_006717804.1:p.Ser495Cys
XM_006717742.3:c.1483A>T XP_006717805.1:p.Ser495Cys
XM_006717743.3:c.1483A>T XP_006717806.1:p.Ser495Cys
XM_006717744.3:c.1373-588A>T XP_006717807.1:n.1373-588A>T
XM_011539574.2:c.1198A>T XP_011537876.1:p.Ser400Cys
XM_011539575.2:c.967A>T XP_011537877.1:p.Ser323Cys
XM_017016027.1:c.1373-588A>T XP_016871516.1:n.1373-588A>T
XR_001747076.1:n.1962A>T
NM_001005463.3:c.1456A>T NP_001005463.1:p.Ser486Cys
NM_001375379.1:c.1483A>T NP_001362308.1:p.Ser495Cys
NM_001375380.1:c.1483A>T MANE Select NP_001362309.1:p.Ser495Cys
NM_001375389.1:c.1483A>T NP_001362318.1:p.Ser495Cys
NM_001375390.1:c.1456A>T NP_001362319.1:p.Ser486Cys
NM_001375391.1:c.1483A>T NP_001362320.1:p.Ser495Cys
NM_001375392.1:c.1346-480A>T NP_001362321.1:n.1346-480A>T