Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128908201T>A , CM000665.2:g.128908201T>A	GRCh38
NC_000003.11:g.128627044T>A , CM000665.1:g.128627044T>A	GRCh37
NC_000003.10:g.130109734T>A	NCBI36
NG_017064.1:g.33712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1295T>A MANE Select	ENSP00000312618.7:p.Leu432His
ENST00000511325.2:n.1373T>A
ENST00000679399.1:c.*1466T>A	ENSP00000505434.1:n.*1466T>A
ENST00000679431.1:c.*1171T>A	ENSP00000506440.1:n.*1171T>A
ENST00000679613.1:c.1295T>A	ENSP00000504971.1:p.Leu432His
ENST00000679715.1:c.926T>A	ENSP00000506228.1:p.Leu309His
ENST00000679824.1:c.*2601T>A	ENSP00000505516.1:n.*2601T>A
ENST00000679990.1:n.1530T>A
ENST00000680636.1:c.1295T>A	ENSP00000504886.1:p.Leu432His
ENST00000680638.1:n.340T>A
ENST00000680744.1:c.*648T>A	ENSP00000505243.1:n.*648T>A
ENST00000680764.1:c.*2699T>A	ENSP00000505126.1:n.*2699T>A
ENST00000681319.1:n.1373T>A
ENST00000681367.1:c.1295T>A	ENSP00000505309.1:p.Leu432His
ENST00000681552.1:c.1149+3696T>A	ENSP00000505699.1:n.1149+3696T>A
ENST00000681583.1:c.1295T>A	ENSP00000506340.1:p.Leu432His
ENST00000681585.1:c.1295T>A	ENSP00000506316.1:p.Leu432His
ENST00000681784.1:n.1373T>A
ENST00000681886.1:c.*488T>A	ENSP00000506500.1:n.*488T>A
ENST00000308982.11:c.1295T>A	ENSP00000312618.7:p.Leu432His
ENST00000505192.5:c.*991T>A	ENSP00000426277.1:n.*991T>A
ENST00000505867.5:c.*1095T>A	ENSP00000425346.1:n.*1095T>A
ENST00000508971.1:c.584T>A	ENSP00000422683.1:p.Leu195His
ENST00000511227.5:c.*1189T>A	ENSP00000425226.1:n.*1189T>A
ENST00000511325.1:n.276T>A
ENST00000511526.5:n.828T>A
NM_014049.4:c.1295T>A	NP_054768.2:p.Leu432His
NR_033426.1:n.1673T>A
XM_011512742.1:c.926T>A	XP_011511044.1:p.Leu309His
XR_427367.1:n.1371T>A
XM_024453484.1:c.926T>A	XP_024309252.1:p.Leu309His
XM_024453485.1:c.926T>A	XP_024309253.1:p.Leu309His
XR_427367.3:n.1371T>A
NM_014049.5:c.1295T>A MANE Select	NP_054768.2:p.Leu432His
NR_033426.2:n.1543T>A

Linked Data

Genomic Alleles

Transcript Alleles