Canonical Allele Identifier: CA83762390

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.134618954C>T , CM000665.2:g.134618954C>T GRCh38
NC_000003.11:g.134337796C>T , CM000665.1:g.134337796C>T GRCh37
NC_000003.10:g.135820486C>T NCBI36
NG_054713.1:g.42100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423778.7:c.710+194G>A (KY) MANE Select ENSP00000397598.2:n.710+194G>A
ENST00000423778.6:c.710+194G>A (KY) ENSP00000397598.2:n.710+194G>A
ENST00000460895.5:c.-153+3516C>T (EPHB1) ENSP00000417435.1:n.-153+3516C>T
ENST00000467708.2:n.361+3516C>T (EPHB1)
ENST00000472904.5:n.416+3516C>T (EPHB1)
ENST00000503669.1:c.710+194G>A (KY) ENSP00000426777.1:n.710+194G>A
ENST00000506319.5:n.1829+194G>A (KY)
ENST00000508041.1:n.488+194G>A (KY)
ENST00000508956.5:c.647+194G>A (KY) ENSP00000421297.1:n.647+194G>A
NM_178554.4:c.710+194G>A (KY) NP_848649.3:n.710+194G>A
XM_005247417.2:c.833+194G>A (KY) XP_005247474.1:n.833+194G>A
XM_005247418.2:c.824+194G>A (KY) XP_005247475.1:n.824+194G>A
XM_006713612.2:c.770+194G>A (KY) XP_006713675.1:n.770+194G>A
XM_011512747.1:c.410+194G>A (KY) XP_011511049.1:n.410+194G>A
XR_241572.2:n.539+3516C>T
XR_427411.2:n.539+3516C>T
XR_924521.1:n.539+3516C>T
NM_001350859.1:c.662+194G>A (KY) NP_001337788.1:n.662+194G>A
NM_001350860.1:c.584+194G>A (KY) NP_001337789.1:n.584+194G>A
NM_001366276.1:c.647+194G>A (KY) NP_001353205.1:n.647+194G>A
NM_001366277.1:c.710+194G>A (KY) NP_001353206.1:n.710+194G>A
NM_178554.5:c.710+194G>A (KY) NP_848649.3:n.710+194G>A
XM_006713612.3:c.770+194G>A (KY) XP_006713675.1:n.770+194G>A
XM_017006287.1:c.902+194G>A (KY) XP_016861776.1:n.902+194G>A
XM_017006288.1:c.848+194G>A (KY) XP_016861777.1:n.848+194G>A
XM_017006290.1:c.785+194G>A (KY) XP_016861779.1:n.785+194G>A
XM_024453389.1:c.-153+3516C>T (EPHB1) XP_024309157.1:n.-153+3516C>T
XM_024453390.1:c.-153+3516C>T (EPHB1) XP_024309158.1:n.-153+3516C>T
XM_024453508.1:c.770+194G>A (KY) XP_024309276.1:n.770+194G>A
XR_002959586.1:n.1927+3516C>T (CEP63)
NM_178554.6:c.710+194G>A (KY) MANE Select NP_848649.3:n.710+194G>A
NM_001350859.2:c.662+194G>A (KY) NP_001337788.1:n.662+194G>A
NM_001350860.2:c.584+194G>A (KY) NP_001337789.1:n.584+194G>A
NM_001366277.2:c.710+194G>A (KY) NP_001353206.1:n.710+194G>A