Canonical Allele Identifier: CA354636035
Community Standard Title: NM_178554.6(KY):c.560G>A (p.Arg187His)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.134620781C>T , CM000665.2:g.134620781C>T GRCh38
NC_000003.11:g.134339623C>T , CM000665.1:g.134339623C>T GRCh37
NC_000003.10:g.135822313C>T NCBI36
NG_054713.1:g.40273G>A

Transcript Alleles

HGVS Amino-acid Change
NM_178554.6:c.560G>A (KY) MANE Select NP_848649.3:p.Arg187His
ENST00000423778.7:c.560G>A (KY) MANE Select ENSP00000397598.2:p.Arg187His
NM_001350859.1:c.512G>A (KY) NP_001337788.1:p.Arg171His
NM_001350859.2:c.512G>A (KY) NP_001337788.1:p.Arg171His
NM_001350860.1:c.434G>A (KY) NP_001337789.1:p.Arg145His
NM_001350860.2:c.434G>A (KY) NP_001337789.1:p.Arg145His
NM_001366276.1:c.497G>A (KY) NP_001353205.1:p.Arg166His
NM_001366277.1:c.560G>A (KY) NP_001353206.1:p.Arg187His
NM_001366277.2:c.560G>A (KY) NP_001353206.1:p.Arg187His
NM_178554.4:c.560G>A (KY) NP_848649.3:p.Arg187His
NM_178554.5:c.560G>A (KY) NP_848649.3:p.Arg187His
ENST00000423778.6:c.560G>A (KY) ENSP00000397598.2:p.Arg187His
ENST00000460895.5:c.-153+5343C>T (EPHB1) ENSP00000417435.1:n.-153+5343C>T
ENST00000467708.2:n.361+5343C>T (EPHB1)
ENST00000472904.5:n.416+5343C>T (EPHB1)
ENST00000503669.1:c.560G>A (KY) ENSP00000426777.1:p.Arg187His
ENST00000506319.5:n.1640G>A (KY)
ENST00000508041.1:n.338G>A (KY)
ENST00000508956.5:c.497G>A (KY) ENSP00000421297.1:p.Arg166His
XM_005247417.2:c.683G>A (KY) XP_005247474.1:p.Arg228His
XM_005247418.2:c.674G>A (KY) XP_005247475.1:p.Arg225His
XM_006713612.2:c.620G>A (KY) XP_006713675.1:p.Arg207His
XM_006713612.3:c.620G>A (KY) XP_006713675.1:p.Arg207His
XM_011512747.1:c.260G>A (KY) XP_011511049.1:p.Arg87His
XM_017006287.1:c.752G>A (KY) XP_016861776.1:p.Arg251His
XM_017006288.1:c.698G>A (KY) XP_016861777.1:p.Arg233His
XM_017006290.1:c.635G>A (KY) XP_016861779.1:p.Arg212His
XM_024453389.1:c.-153+5343C>T (EPHB1) XP_024309157.1:n.-153+5343C>T
XM_024453390.1:c.-153+5343C>T (EPHB1) XP_024309158.1:n.-153+5343C>T
XM_024453508.1:c.620G>A (KY) XP_024309276.1:p.Arg207His
XR_002959586.1:n.1927+5343C>T (CEP63)
XR_241572.2:n.539+5343C>T
XR_427411.2:n.539+5343C>T
XR_924521.1:n.539+5343C>T