Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.134647586A>G , CM000665.2:g.134647586A>G	GRCh38
NC_000003.11:g.134366428A>G , CM000665.1:g.134366428A>G	GRCh37
NC_000003.10:g.135849118A>G	NCBI36
NG_054713.1:g.13468T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_178554.6:c.137-89T>C (KY) MANE Select	NP_848649.3:n.137-89T>C
ENST00000423778.7:c.137-89T>C (KY) MANE Select	ENSP00000397598.2:n.137-89T>C
NM_001350859.1:c.137-89T>C (KY)	NP_001337788.1:n.137-89T>C
NM_001350859.2:c.137-89T>C (KY)	NP_001337788.1:n.137-89T>C
NM_001350860.1:c.136+3239T>C (KY)	NP_001337789.1:n.136+3239T>C
NM_001350860.2:c.136+3239T>C (KY)	NP_001337789.1:n.136+3239T>C
NM_001366276.1:c.137-89T>C (KY)	NP_001353205.1:n.137-89T>C
NM_001366277.1:c.137-89T>C (KY)	NP_001353206.1:n.137-89T>C
NM_001366277.2:c.137-89T>C (KY)	NP_001353206.1:n.137-89T>C
NM_178554.4:c.137-89T>C (KY)	NP_848649.3:n.137-89T>C
NM_178554.5:c.137-89T>C (KY)	NP_848649.3:n.137-89T>C
ENST00000423778.6:c.137-89T>C (KY)	ENSP00000397598.2:n.137-89T>C
ENST00000460895.5:c.-153+32148A>G (EPHB1)	ENSP00000417435.1:n.-153+32148A>G
ENST00000467708.2:n.361+32148A>G (EPHB1)
ENST00000503669.1:c.137-89T>C (KY)	ENSP00000426777.1:n.137-89T>C
ENST00000506319.5:n.759-89T>C (KY)
ENST00000508956.5:c.137-89T>C (KY)	ENSP00000421297.1:n.137-89T>C
XM_005247417.2:c.260-89T>C (KY)	XP_005247474.1:n.260-89T>C
XM_005247418.2:c.314-89T>C (KY)	XP_005247475.1:n.314-89T>C
XM_006713612.2:c.260-89T>C (KY)	XP_006713675.1:n.260-89T>C
XM_006713612.3:c.260-89T>C (KY)	XP_006713675.1:n.260-89T>C
XM_017006287.1:c.314-89T>C (KY)	XP_016861776.1:n.314-89T>C
XM_017006288.1:c.260-89T>C (KY)	XP_016861777.1:n.260-89T>C
XM_017006290.1:c.260-89T>C (KY)	XP_016861779.1:n.260-89T>C
XM_024453389.1:c.-153+32148A>G (EPHB1)	XP_024309157.1:n.-153+32148A>G
XM_024453390.1:c.-153+32148A>G (EPHB1)	XP_024309158.1:n.-153+32148A>G
XM_024453508.1:c.260-89T>C (KY)	XP_024309276.1:n.260-89T>C
XR_002959586.1:n.1927+32148A>G (CEP63)
XR_241572.2:n.540-11098A>G
XR_924521.1:n.540-25368A>G