Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128904210G>A , CM000665.2:g.128904210G>A	GRCh38
NC_000003.11:g.128623053G>A , CM000665.1:g.128623053G>A	GRCh37
NC_000003.10:g.130105743G>A	NCBI36
NG_017064.1:g.29721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1029+78G>A MANE Select	ENSP00000312618.7:n.1029+78G>A
ENST00000511325.2:n.1107+78G>A
ENST00000679399.1:c.*923+78G>A	ENSP00000505434.1:n.*923+78G>A
ENST00000679431.1:c.*905+78G>A	ENSP00000506440.1:n.*905+78G>A
ENST00000679613.1:c.1029+78G>A	ENSP00000504971.1:n.1029+78G>A
ENST00000679715.1:c.660+78G>A	ENSP00000506228.1:n.660+78G>A
ENST00000679824.1:c.*2335+78G>A	ENSP00000505516.1:n.*2335+78G>A
ENST00000679990.1:n.1264+78G>A
ENST00000680636.1:c.1029+78G>A	ENSP00000504886.1:n.1029+78G>A
ENST00000680744.1:c.*382+78G>A	ENSP00000505243.1:n.*382+78G>A
ENST00000680764.1:c.*2433+78G>A	ENSP00000505126.1:n.*2433+78G>A
ENST00000681319.1:n.1107+78G>A
ENST00000681367.1:c.1029+78G>A	ENSP00000505309.1:n.1029+78G>A
ENST00000681552.1:c.1029+78G>A	ENSP00000505699.1:n.1029+78G>A
ENST00000681583.1:c.1029+78G>A	ENSP00000506340.1:n.1029+78G>A
ENST00000681585.1:c.1029+78G>A	ENSP00000506316.1:n.1029+78G>A
ENST00000681589.1:n.1243+78G>A
ENST00000681784.1:n.1107+78G>A
ENST00000681886.1:c.*222+78G>A	ENSP00000506500.1:n.*222+78G>A
ENST00000308982.11:c.1029+78G>A	ENSP00000312618.7:n.1029+78G>A
ENST00000505192.5:c.*725+78G>A	ENSP00000426277.1:n.*725+78G>A
ENST00000505867.5:c.*829+78G>A	ENSP00000425346.1:n.*829+78G>A
ENST00000508971.1:c.318+78G>A	ENSP00000422683.1:n.318+78G>A
ENST00000511227.5:c.*923+78G>A	ENSP00000425226.1:n.*923+78G>A
ENST00000511526.5:n.534+78G>A
NM_014049.4:c.1029+78G>A	NP_054768.2:n.1029+78G>A
NR_033426.1:n.1407+78G>A
XM_011512742.1:c.660+78G>A	XP_011511044.1:n.660+78G>A
XR_427367.1:n.1105+78G>A
XM_024453484.1:c.660+78G>A	XP_024309252.1:n.660+78G>A
XM_024453485.1:c.660+78G>A	XP_024309253.1:n.660+78G>A
XR_427367.3:n.1105+78G>A
NM_014049.5:c.1029+78G>A MANE Select	NP_054768.2:n.1029+78G>A
NR_033426.2:n.1277+78G>A