Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436829T>A , CM000682.2:g.32436829T>A	GRCh38
NC_000020.10:g.31024632T>A , CM000682.1:g.31024632T>A	GRCh37
NC_000020.9:g.30488293T>A	NCBI36
NG_027868.1:g.83486T>A , LRG_630:g.83486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4117T>A MANE Select	ENSP00000364839.4:p.Phe1373Ile
ENST00000646985.1:c.3934T>A	ENSP00000495053.1:p.Phe1312Ile
ENST00000647223.1:n.6470T>A
ENST00000651418.1:c.1870-1601T>A	ENSP00000499150.1:n.1870-1601T>A
ENST00000306058.9:c.4102T>A	ENSP00000305119.5:p.Phe1368Ile
ENST00000375687.8:c.4117T>A	ENSP00000364839.4:p.Phe1373Ile
ENST00000613218.4:c.4117T>A	ENSP00000480487.1:p.Phe1373Ile
ENST00000620121.4:c.4117T>A	ENSP00000481978.1:p.Phe1373Ile
NM_015338.5:c.4117T>A , LRG_630t1:c.4117T>A	NP_056153.2:p.Phe1373Ile
XM_006723727.2:c.4114T>A	XP_006723790.1:p.Phe1372Ile
XM_006723728.2:c.4087T>A	XP_006723791.1:p.Phe1363Ile
XM_006723730.2:c.4033T>A	XP_006723793.1:p.Phe1345Ile
XM_006723732.2:c.3934T>A	XP_006723795.1:p.Phe1312Ile
XM_006723733.1:c.3433T>A	XP_006723796.1:p.Phe1145Ile
XM_011528647.1:c.4381T>A	XP_011526949.1:p.Phe1461Ile
XM_011528648.1:c.4378T>A	XP_011526950.1:p.Phe1460Ile
XM_011528649.1:c.4297T>A	XP_011526951.1:p.Phe1433Ile
XM_011528650.1:c.4228T>A	XP_011526952.1:p.Phe1410Ile
XM_011528651.1:c.4096T>A	XP_011526953.1:p.Phe1366Ile
XM_011528652.1:c.4033T>A	XP_011526954.1:p.Phe1345Ile
NM_001363734.1:c.3934T>A	NP_001350663.1:p.Phe1312Ile
XM_006723727.3:c.4114T>A	XP_006723790.1:p.Phe1372Ile
XM_006723728.3:c.4087T>A	XP_006723791.1:p.Phe1363Ile
XM_006723730.4:c.4033T>A	XP_006723793.1:p.Phe1345Ile
XM_011528648.3:c.4378T>A	XP_011526950.1:p.Phe1460Ile
XM_011528652.2:c.4033T>A	XP_011526954.1:p.Phe1345Ile
XM_017027704.1:c.4033T>A	XP_016883193.1:p.Phe1345Ile
XM_017027705.1:c.4033T>A	XP_016883194.1:p.Phe1345Ile
XM_017027706.1:c.3964T>A	XP_016883195.1:p.Phe1322Ile
NM_015338.6:c.4117T>A MANE Select	NP_056153.2:p.Phe1373Ile

Linked Data

Genomic Alleles

Transcript Alleles