Canonical Allele Identifier: CA6216585
Community Standard Title: NM_003797.5(EED):c.1199+10T>C
Gene: EED HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86278001T>C , CM000673.2:g.86278001T>C GRCh38
NC_000011.9:g.85989043T>C , CM000673.1:g.85989043T>C GRCh37
NC_000011.8:g.85666691T>C NCBI36
NG_029595.1:g.38238T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003797.5:c.1199+10T>C MANE Select NP_003788.2:n.1199+10T>C
ENST00000263360.11:c.1199+10T>C MANE Select ENSP00000263360.6:n.1199+10T>C
NM_001308007.1:c.1274+10T>C NP_001294936.1:n.1274+10T>C
NM_001308007.2:c.1274+10T>C NP_001294936.1:n.1274+10T>C
NM_001330334.1:c.959+10T>C NP_001317263.1:n.959+10T>C
NM_001330334.2:c.959+10T>C NP_001317263.1:n.959+10T>C
NM_003797.3:c.1199+10T>C NP_003788.2:n.1199+10T>C
NM_003797.4:c.1199+10T>C NP_003788.2:n.1199+10T>C
NM_152991.2:c.*6T>C NP_694536.1:n.*6T>C
ENST00000263360.10:c.1199+10T>C ENSP00000263360.6:n.1199+10T>C
ENST00000327320.8:c.*6T>C ENSP00000315587.4:n.*6T>C
ENST00000351625.10:c.1274+10T>C ENSP00000338186.5:n.1274+10T>C
ENST00000524673.2:n.975+10T>C
ENST00000527888.1:c.194+10T>C ENSP00000437318.1:n.194+10T>C
ENST00000528180.5:c.959+10T>C ENSP00000431778.1:n.959+10T>C
ENST00000528250.1:n.894+10T>C
ENST00000534564.5:n.2611+10T>C
ENST00000534595.1:c.353T>C
ENST00000672825.1:c.1199+10T>C ENSP00000500834.1:n.1199+10T>C
ENST00000673233.2:c.1379+10T>C ENSP00000500914.2:n.1379+10T>C
ENST00000707108.1:c.1094+10T>C ENSP00000516737.1:n.1094+10T>C
XM_005274373.1:c.959+10T>C XP_005274430.1:n.959+10T>C
XM_011545330.1:c.1274+10T>C XP_011543632.1:n.1274+10T>C
XM_011545330.2:c.1274+10T>C XP_011543632.1:n.1274+10T>C
XM_017018512.2:c.1199+10T>C XP_016874001.1:n.1199+10T>C
XM_017018513.2:c.959+10T>C XP_016874002.1:n.959+10T>C
XR_001748022.2:n.1822+10T>C
XR_247215.2:n.1779+10T>C
XR_247215.4:n.1570+10T>C