Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93793189T>A , CM000672.2:g.93793189T>A	GRCh38
NC_000010.10:g.95552946T>A , CM000672.1:g.95552946T>A	GRCh37
NC_000010.9:g.95542936T>A	NCBI36
NG_011832.1:g.40381T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371418.9:c.677T>A MANE Select	ENSP00000360472.4:p.Phe226Tyr
ENST00000485458.3:n.4653T>A
ENST00000635953.1:c.677T>A	ENSP00000490058.1:p.Phe226Tyr
ENST00000636155.1:c.677T>A	ENSP00000490355.1:p.Phe226Tyr
ENST00000636232.1:c.*463T>A	ENSP00000490325.1:n.*463T>A
ENST00000636754.1:c.*519T>A	ENSP00000489781.1:n.*519T>A
ENST00000636946.1:c.*846T>A	ENSP00000490654.1:n.*846T>A
ENST00000637037.1:c.*267T>A	ENSP00000490860.1:n.*267T>A
ENST00000637347.1:n.538T>A
ENST00000637611.1:c.*233T>A	ENSP00000489682.1:n.*233T>A
ENST00000637689.1:c.-695T>A	ENSP00000490496.1:n.-695T>A
ENST00000637925.1:c.*272T>A	ENSP00000489763.1:n.*272T>A
ENST00000638049.1:c.*435T>A	ENSP00000490597.1:n.*435T>A
ENST00000676175.1:n.2416T>A
ENST00000371413.4:c.677T>A	ENSP00000360467.3:p.Phe226Tyr
ENST00000371418.8:c.677T>A	ENSP00000360472.4:p.Phe226Tyr
ENST00000626307.1:n.4592T>A
ENST00000626946.1:n.347T>A
ENST00000627420.2:c.*386T>A	ENSP00000487116.1:n.*386T>A
ENST00000629035.2:c.605T>A	ENSP00000486908.1:p.Phe202Tyr
ENST00000630047.2:c.533T>A	ENSP00000485917.1:p.Phe178Tyr
ENST00000630412.1:n.465T>A
ENST00000630487.2:c.*467T>A	ENSP00000486859.1:n.*467T>A
NM_001308275.1:c.677T>A	NP_001295204.1:p.Phe226Tyr
NM_001308276.1:c.533T>A	NP_001295205.1:p.Phe178Tyr
NM_005097.2:c.677T>A	NP_005088.1:p.Phe226Tyr
NM_005097.3:c.677T>A	NP_005088.1:p.Phe226Tyr
NR_131777.1:n.941T>A
XM_017016911.2:c.677T>A	XP_016872400.1:p.Phe226Tyr
XM_017016912.2:c.533T>A	XP_016872401.1:p.Phe178Tyr
NM_005097.4:c.677T>A MANE Select	NP_005088.1:p.Phe226Tyr
NM_001308275.2:c.677T>A	NP_001295204.1:p.Phe226Tyr
NM_001308276.2:c.533T>A	NP_001295205.1:p.Phe178Tyr
NR_131777.2:n.814T>A

Linked Data

Genomic Alleles

Transcript Alleles