Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436800T>A , CM000682.2:g.32436800T>A	GRCh38
NC_000020.10:g.31024603T>A , CM000682.1:g.31024603T>A	GRCh37
NC_000020.9:g.30488264T>A	NCBI36
NG_027868.1:g.83457T>A , LRG_630:g.83457T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4088T>A MANE Select	ENSP00000364839.4:p.Phe1363Tyr
ENST00000646985.1:c.3905T>A	ENSP00000495053.1:p.Phe1302Tyr
ENST00000647223.1:n.6441T>A
ENST00000651418.1:c.1870-1630T>A	ENSP00000499150.1:n.1870-1630T>A
ENST00000306058.9:c.4073T>A	ENSP00000305119.5:p.Phe1358Tyr
ENST00000375687.8:c.4088T>A	ENSP00000364839.4:p.Phe1363Tyr
ENST00000613218.4:c.4088T>A	ENSP00000480487.1:p.Phe1363Tyr
ENST00000620121.4:c.4088T>A	ENSP00000481978.1:p.Phe1363Tyr
NM_015338.5:c.4088T>A , LRG_630t1:c.4088T>A	NP_056153.2:p.Phe1363Tyr
XM_006723727.2:c.4085T>A	XP_006723790.1:p.Phe1362Tyr
XM_006723728.2:c.4058T>A	XP_006723791.1:p.Phe1353Tyr
XM_006723730.2:c.4004T>A	XP_006723793.1:p.Phe1335Tyr
XM_006723732.2:c.3905T>A	XP_006723795.1:p.Phe1302Tyr
XM_006723733.1:c.3404T>A	XP_006723796.1:p.Phe1135Tyr
XM_011528647.1:c.4352T>A	XP_011526949.1:p.Phe1451Tyr
XM_011528648.1:c.4349T>A	XP_011526950.1:p.Phe1450Tyr
XM_011528649.1:c.4268T>A	XP_011526951.1:p.Phe1423Tyr
XM_011528650.1:c.4199T>A	XP_011526952.1:p.Phe1400Tyr
XM_011528651.1:c.4067T>A	XP_011526953.1:p.Phe1356Tyr
XM_011528652.1:c.4004T>A	XP_011526954.1:p.Phe1335Tyr
NM_001363734.1:c.3905T>A	NP_001350663.1:p.Phe1302Tyr
XM_006723727.3:c.4085T>A	XP_006723790.1:p.Phe1362Tyr
XM_006723728.3:c.4058T>A	XP_006723791.1:p.Phe1353Tyr
XM_006723730.4:c.4004T>A	XP_006723793.1:p.Phe1335Tyr
XM_011528648.3:c.4349T>A	XP_011526950.1:p.Phe1450Tyr
XM_011528652.2:c.4004T>A	XP_011526954.1:p.Phe1335Tyr
XM_017027704.1:c.4004T>A	XP_016883193.1:p.Phe1335Tyr
XM_017027705.1:c.4004T>A	XP_016883194.1:p.Phe1335Tyr
XM_017027706.1:c.3935T>A	XP_016883195.1:p.Phe1312Tyr
NM_015338.6:c.4088T>A MANE Select	NP_056153.2:p.Phe1363Tyr

Linked Data

Genomic Alleles

Transcript Alleles