Canonical Allele Identifier: CA378718812

Gene: EBF3

Linked Data

• gnomAD v3: 10-129841022-A-C
• gnomAD v4: 10-129841022-A-C
• MyVariant Identifiers: chr10:g.131639286A>C (hg19) ; chr10:g.129841022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841022A>C , CM000672.2:g.129841022A>C	GRCh38
NC_000010.10:g.131639286A>C , CM000672.1:g.131639286A>C	GRCh37
NC_000010.9:g.131529276A>C	NCBI36
NG_030038.1:g.127806T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1383T>G	ENSP00000347463.4:p.Ser461Arg
ENST00000368648.8:c.1356T>G	ENSP00000357637.3:p.Ser452Arg
ENST00000440978.2:c.1383T>G MANE Select	ENSP00000387543.2:p.Ser461Arg
ENST00000675373.1:n.1028T>G
ENST00000355311.9:c.1383T>G	ENSP00000347463.4:p.Ser461Arg
ENST00000368648.7:c.1356T>G	ENSP00000357637.3:p.Ser452Arg
ENST00000440978.1:c.67T>G
NM_001005463.2:c.1356T>G	NP_001005463.1:p.Ser452Arg
XM_005252667.2:c.1356T>G	XP_005252724.1:p.Ser452Arg
XM_005252668.2:c.1383T>G	XP_005252725.1:p.Ser461Arg
XM_005252669.2:c.1356T>G	XP_005252726.1:p.Ser452Arg
XM_006717739.2:c.1383T>G	XP_006717802.1:p.Ser461Arg
XM_006717740.2:c.1383T>G	XP_006717803.1:p.Ser461Arg
XM_006717741.2:c.1383T>G	XP_006717804.1:p.Ser461Arg
XM_006717742.2:c.1383T>G	XP_006717805.1:p.Ser461Arg
XM_006717743.2:c.1383T>G	XP_006717806.1:p.Ser461Arg
XM_006717744.2:c.1373-688T>G	XP_006717807.1:n.1373-688T>G
XM_011539574.1:c.1098T>G	XP_011537876.1:p.Ser366Arg
XM_011539575.1:c.867T>G	XP_011537877.1:p.Ser289Arg
XM_005252667.3:c.1356T>G	XP_005252724.1:p.Ser452Arg
XM_005252668.3:c.1383T>G	XP_005252725.1:p.Ser461Arg
XM_005252669.3:c.1356T>G	XP_005252726.1:p.Ser452Arg
XM_006717739.3:c.1383T>G	XP_006717802.1:p.Ser461Arg
XM_006717740.3:c.1383T>G	XP_006717803.1:p.Ser461Arg
XM_006717741.3:c.1383T>G	XP_006717804.1:p.Ser461Arg
XM_006717742.3:c.1383T>G	XP_006717805.1:p.Ser461Arg
XM_006717743.3:c.1383T>G	XP_006717806.1:p.Ser461Arg
XM_006717744.3:c.1373-688T>G	XP_006717807.1:n.1373-688T>G
XM_011539574.2:c.1098T>G	XP_011537876.1:p.Ser366Arg
XM_011539575.2:c.867T>G	XP_011537877.1:p.Ser289Arg
XM_017016027.1:c.1373-688T>G	XP_016871516.1:n.1373-688T>G
XR_001747076.1:n.1862T>G
NM_001005463.3:c.1356T>G	NP_001005463.1:p.Ser452Arg
NM_001375379.1:c.1383T>G	NP_001362308.1:p.Ser461Arg
NM_001375380.1:c.1383T>G MANE Select	NP_001362309.1:p.Ser461Arg
NM_001375389.1:c.1383T>G	NP_001362318.1:p.Ser461Arg
NM_001375390.1:c.1356T>G	NP_001362319.1:p.Ser452Arg
NM_001375391.1:c.1383T>G	NP_001362320.1:p.Ser461Arg
NM_001375392.1:c.1346-580T>G	NP_001362321.1:n.1346-580T>G