Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.75921721G= , CM000666.2:g.75921721G=	GRCh38
NC_000004.11:g.76842874G= , CM000666.1:g.76842874G=	GRCh37
NC_000004.10:g.77061898G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286733.9:c.667-598C= MANE Select	ENSP00000286733.4:n.667-598C=
ENST00000513045.6:c.78-598C=
ENST00000286733.8:c.667-598C=	ENSP00000286733.4:n.667-598C=
ENST00000505594.1:c.364-598C=	ENSP00000426977.1:n.364-598C=
ENST00000507956.5:c.667-598C=	ENSP00000427641.1:n.667-598C=
ENST00000513045.5:c.80-598C=
ENST00000602782.5:c.291-598C=
NM_001042402.1:c.667-598C=	NP_001035861.1:n.667-598C=
NM_014435.3:c.667-598C=	NP_055250.2:n.667-598C=
XM_005262920.2:c.667-598C=	XP_005262977.1:n.667-598C=
XM_005262921.3:c.667-598C=	XP_005262978.1:n.667-598C=
XM_005262923.2:c.667-598C=	XP_005262980.1:n.667-598C=
XM_005262924.2:c.667-598C=	XP_005262981.1:n.667-598C=
XM_005262925.2:c.667-598C=	XP_005262982.1:n.667-598C=
XM_006714180.2:c.667-598C=	XP_006714243.1:n.667-598C=
XM_011531852.1:c.667-598C=	XP_011530154.1:n.667-598C=
XM_011531853.1:c.667-598C=	XP_011530155.1:n.667-598C=
XM_011531854.1:c.667-598C=	XP_011530156.1:n.667-598C=
NM_001363719.1:c.667-598C=	NP_001350648.1:n.667-598C=
XM_005262920.4:c.667-598C=	XP_005262977.1:n.667-598C=
XM_005262921.4:c.667-598C=	XP_005262978.1:n.667-598C=
XM_005262923.3:c.667-598C=	XP_005262980.1:n.667-598C=
XM_005262924.3:c.667-598C=	XP_005262981.1:n.667-598C=
XM_006714180.3:c.667-598C=	XP_006714243.1:n.667-598C=
XM_011531852.3:c.667-598C=	XP_011530154.1:n.667-598C=
XM_011531854.3:c.667-598C=	XP_011530156.1:n.667-598C=
XM_017008027.2:c.667-598C=	XP_016863516.1:n.667-598C=
XM_017008028.2:c.667-598C=	XP_016863517.1:n.667-598C=
XM_017008029.2:c.667-598C=	XP_016863518.1:n.667-598C=
XM_017008030.2:c.667-598C=	XP_016863519.1:n.667-598C=
XR_001741202.2:n.713-598C=
NM_014435.4:c.667-598C= MANE Select	NP_055250.2:n.667-598C=
NM_001042402.2:c.667-598C=	NP_001035861.1:n.667-598C=
NM_001363719.2:c.667-598C=	NP_001350648.1:n.667-598C=