Canonical Allele Identifier: CA5748306

Gene: EBF3

Linked Data

• dbSNP Id: rs758307111
• ExAC: 10:131639150 G / T
• gnomAD v2: 10-131639150-G-T
• gnomAD v4: 10-129840886-G-T
• MyVariant Identifiers: chr10:g.131639150G>T (hg19) ; chr10:g.129840886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129840886G>T , CM000672.2:g.129840886G>T	GRCh38
NC_000010.10:g.131639150G>T , CM000672.1:g.131639150G>T	GRCh37
NC_000010.9:g.131529140G>T	NCBI36
NG_030038.1:g.127942C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355311.10:c.1519C>A	ENSP00000347463.4:p.Pro507Thr
ENST00000368648.8:c.1492C>A	ENSP00000357637.3:p.Pro498Thr
ENST00000440978.2:c.1519C>A MANE Select	ENSP00000387543.2:p.Pro507Thr
ENST00000675373.1:n.1164C>A
ENST00000355311.9:c.1519C>A	ENSP00000347463.4:p.Pro507Thr
ENST00000368648.7:c.1492C>A	ENSP00000357637.3:p.Pro498Thr
ENST00000440978.1:c.203C>A
NM_001005463.2:c.1492C>A	NP_001005463.1:p.Pro498Thr
XM_005252667.2:c.1492C>A	XP_005252724.1:p.Pro498Thr
XM_005252668.2:c.1519C>A	XP_005252725.1:p.Pro507Thr
XM_005252669.2:c.1492C>A	XP_005252726.1:p.Pro498Thr
XM_006717739.2:c.1519C>A	XP_006717802.1:p.Pro507Thr
XM_006717740.2:c.1519C>A	XP_006717803.1:p.Pro507Thr
XM_006717741.2:c.1519C>A	XP_006717804.1:p.Pro507Thr
XM_006717742.2:c.1519C>A	XP_006717805.1:p.Pro507Thr
XM_006717743.2:c.1519C>A	XP_006717806.1:p.Pro507Thr
XM_006717744.2:c.1373-552C>A	XP_006717807.1:n.1373-552C>A
XM_011539574.1:c.1234C>A	XP_011537876.1:p.Pro412Thr
XM_011539575.1:c.1003C>A	XP_011537877.1:p.Pro335Thr
XM_005252667.3:c.1492C>A	XP_005252724.1:p.Pro498Thr
XM_005252668.3:c.1519C>A	XP_005252725.1:p.Pro507Thr
XM_005252669.3:c.1492C>A	XP_005252726.1:p.Pro498Thr
XM_006717739.3:c.1519C>A	XP_006717802.1:p.Pro507Thr
XM_006717740.3:c.1519C>A	XP_006717803.1:p.Pro507Thr
XM_006717741.3:c.1519C>A	XP_006717804.1:p.Pro507Thr
XM_006717742.3:c.1519C>A	XP_006717805.1:p.Pro507Thr
XM_006717743.3:c.1519C>A	XP_006717806.1:p.Pro507Thr
XM_006717744.3:c.1373-552C>A	XP_006717807.1:n.1373-552C>A
XM_011539574.2:c.1234C>A	XP_011537876.1:p.Pro412Thr
XM_011539575.2:c.1003C>A	XP_011537877.1:p.Pro335Thr
XM_017016027.1:c.1373-552C>A	XP_016871516.1:n.1373-552C>A
XR_001747076.1:n.1998C>A
NM_001005463.3:c.1492C>A	NP_001005463.1:p.Pro498Thr
NM_001375379.1:c.1519C>A	NP_001362308.1:p.Pro507Thr
NM_001375380.1:c.1519C>A MANE Select	NP_001362309.1:p.Pro507Thr
NM_001375389.1:c.1519C>A	NP_001362318.1:p.Pro507Thr
NM_001375390.1:c.1492C>A	NP_001362319.1:p.Pro498Thr
NM_001375391.1:c.1519C>A	NP_001362320.1:p.Pro507Thr
NM_001375392.1:c.1346-444C>A	NP_001362321.1:n.1346-444C>A