Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026952G>T , CM000665.2:g.49026952G>T	GRCh38
NC_000003.11:g.49064385G>T , CM000665.1:g.49064385G>T	GRCh37
NC_000003.10:g.49039389G>T	NCBI36
NG_012091.1:g.7491C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+8C>A	ENSP00000515567.1:n.2659+8C>A
ENST00000703937.1:c.*1720+8C>A	ENSP00000515568.1:n.*1720+8C>A
ENST00000326739.9:c.619+8C>A MANE Select	ENSP00000321584.4:n.619+8C>A
ENST00000429182.6:c.619+8C>A	ENSP00000393525.2:n.619+8C>A
ENST00000442157.2:c.544+8C>A	ENSP00000403502.2:n.544+8C>A
ENST00000462980.2:n.1134+8C>A
ENST00000472328.2:n.685+8C>A
ENST00000491610.2:n.514C>A
ENST00000676607.1:n.915+8C>A
ENST00000676627.1:n.1349+8C>A
ENST00000676708.1:n.1834C>A
ENST00000676864.1:n.1703C>A
ENST00000677010.1:c.655+8C>A	ENSP00000503089.1:n.655+8C>A
ENST00000677108.1:n.2460C>A
ENST00000677168.1:n.1091+8C>A
ENST00000677185.1:n.1117C>A
ENST00000677205.1:n.1338C>A
ENST00000677344.1:n.1828C>A
ENST00000677480.1:c.*296+8C>A	ENSP00000504378.1:n.*296+8C>A
ENST00000677519.1:n.1329+8C>A
ENST00000677593.1:n.1110C>A
ENST00000677740.1:n.2059C>A
ENST00000677991.1:n.1792+8C>A
ENST00000678001.1:n.1112+8C>A
ENST00000678085.1:n.1110C>A
ENST00000678177.1:n.2403C>A
ENST00000678603.1:n.1697+8C>A
ENST00000678724.1:c.544+8C>A	ENSP00000503874.1:n.544+8C>A
ENST00000678920.1:n.777+8C>A
ENST00000679019.1:n.1324C>A
ENST00000679117.1:c.*434+8C>A	ENSP00000503240.1:n.*434+8C>A
ENST00000679339.1:n.1395C>A
ENST00000326739.8:c.619+8C>A	ENSP00000321584.4:n.619+8C>A
ENST00000429182.5:c.413+8C>A
ENST00000442157.1:c.544+8C>A	ENSP00000403502.1:n.544+8C>A
ENST00000462980.1:n.521+8C>A
ENST00000491610.1:n.514C>A
NM_000884.2:c.619+8C>A	NP_000875.2:n.619+8C>A
XM_006713128.2:c.829+8C>A	XP_006713191.1:n.829+8C>A
XM_006713128.3:c.829+8C>A	XP_006713191.1:n.829+8C>A
XM_017006349.1:c.754+8C>A	XP_016861838.1:n.754+8C>A
XM_017006350.1:c.754+8C>A	XP_016861839.1:n.754+8C>A
NM_000884.3:c.619+8C>A MANE Select	NP_000875.2:n.619+8C>A

Linked Data

Genomic Alleles

Transcript Alleles