Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93758620G= , CM000672.2:g.93758620G=	GRCh38
NC_000010.10:g.95518377G= , CM000672.1:g.95518377G=	GRCh37
NC_000010.9:g.95508367G=	NCBI36
NG_011832.1:g.5812G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371418.9:c.216-140G= MANE Select	ENSP00000360472.4:n.216-140G=
ENST00000635953.1:c.216-140G=	ENSP00000490058.1:n.216-140G=
ENST00000636155.1:c.216-140G=	ENSP00000490355.1:n.216-140G=
ENST00000636232.1:c.*2-140G=	ENSP00000490325.1:n.*2-140G=
ENST00000636754.1:c.*6-140G=	ENSP00000489781.1:n.*6-140G=
ENST00000636946.1:c.216-140G=	ENSP00000490654.1:n.216-140G=
ENST00000637037.1:c.216-140G=	ENSP00000490860.1:n.216-140G=
ENST00000637347.1:n.80G=
ENST00000637611.1:c.216-140G=	ENSP00000489682.1:n.216-140G=
ENST00000637689.1:c.-1156-140G=	ENSP00000490496.1:n.-1156-140G=
ENST00000637925.1:c.216-140G=	ENSP00000489763.1:n.216-140G=
ENST00000638049.1:c.133-140G=	ENSP00000490597.1:n.133-140G=
ENST00000371413.4:c.216-140G=	ENSP00000360467.3:n.216-140G=
ENST00000371418.8:c.216-140G=	ENSP00000360472.4:n.216-140G=
ENST00000478763.2:c.216-140G=	ENSP00000486517.1:n.216-140G=
ENST00000627420.2:c.*6-140G=	ENSP00000487116.1:n.*6-140G=
ENST00000627699.1:c.*6-140G=	ENSP00000485868.1:n.*6-140G=
ENST00000629035.2:c.215+261G=	ENSP00000486908.1:n.215+261G=
ENST00000630047.2:c.216-140G=	ENSP00000485917.1:n.216-140G=
ENST00000630184.2:c.216-140G=	ENSP00000486607.1:n.216-140G=
ENST00000630487.2:c.*6-140G=	ENSP00000486859.1:n.*6-140G=
NM_001308275.1:c.216-140G=	NP_001295204.1:n.216-140G=
NM_001308276.1:c.216-140G=	NP_001295205.1:n.216-140G=
NM_005097.2:c.216-140G=	NP_005088.1:n.216-140G=
NM_005097.3:c.216-140G=	NP_005088.1:n.216-140G=
NR_131777.1:n.561-140G=
XM_017016911.2:c.216-140G=	XP_016872400.1:n.216-140G=
XM_017016912.2:c.216-140G=	XP_016872401.1:n.216-140G=
NM_005097.4:c.216-140G= MANE Select	NP_005088.1:n.216-140G=
NM_001308275.2:c.216-140G=	NP_001295204.1:n.216-140G=
NM_001308276.2:c.216-140G=	NP_001295205.1:n.216-140G=
NR_131777.2:n.434-140G=