Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211243C>T , CM000677.2:g.68211243C>T	GRCh38
NC_000015.9:g.68503581C>T , CM000677.1:g.68503581C>T	GRCh37
NC_000015.8:g.66290635C>T	NCBI36
NG_008764.2:g.50969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.542+20G>A MANE Select	ENSP00000249806.5:n.542+20G>A
ENST00000562767.2:c.84-13615G>A	ENSP00000456336.1:n.84-13615G>A
ENST00000563917.2:n.384+20G>A
ENST00000565471.6:c.84-1484G>A	ENSP00000457384.1:n.84-1484G>A
ENST00000635747.1:c.*445+20G>A	ENSP00000490627.1:n.*445+20G>A
ENST00000636212.1:c.*212+20G>A	ENSP00000489851.1:n.*212+20G>A
ENST00000636314.1:c.238+20G>A	ENSP00000490295.1:n.238+20G>A
ENST00000636674.1:n.1644+20G>A
ENST00000636964.1:n.2070+20G>A
ENST00000637054.1:c.198+7293G>A	ENSP00000490807.1:n.198+7293G>A
ENST00000637223.1:c.*256+20G>A	ENSP00000490010.1:n.*256+20G>A
ENST00000637329.1:c.511+20G>A
ENST00000637450.1:c.*196+20G>A	ENSP00000490204.1:n.*196+20G>A
ENST00000637494.1:c.254+20G>A	ENSP00000490057.1:n.254+20G>A
ENST00000637667.1:c.443+20G>A	ENSP00000489843.1:n.443+20G>A
ENST00000637823.1:c.367+20G>A
ENST00000637888.1:c.198+7293G>A	ENSP00000490546.1:n.198+7293G>A
ENST00000638076.1:c.*145+20G>A	ENSP00000490373.1:n.*145+20G>A
ENST00000638144.1:n.185+20G>A
ENST00000646164.1:c.38+7293G>A
ENST00000249806.9:c.542+20G>A	ENSP00000249806.5:n.542+20G>A
ENST00000538696.5:c.638+20G>A	ENSP00000445770.1:n.638+20G>A
ENST00000562767.1:c.84-13615G>A	ENSP00000456336.1:n.84-13615G>A
ENST00000563917.1:n.442+20G>A
ENST00000564752.1:c.568+20G>A	ENSP00000457822.1:n.568+20G>A
ENST00000565471.5:c.84-1484G>A	ENSP00000457384.1:n.84-1484G>A
ENST00000566347.5:c.353+20G>A	ENSP00000457783.1:n.353+20G>A
ENST00000567060.5:c.298-1523G>A	ENSP00000454818.1:n.298-1523G>A
NM_017882.2:c.542+20G>A	NP_060352.1:n.542+20G>A
XR_931861.1:n.764+20G>A
NM_017882.3:c.542+20G>A MANE Select	NP_060352.1:n.542+20G>A

Linked Data

Genomic Alleles

Transcript Alleles