Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902666C>A , CM000665.2:g.128902666C>A	GRCh38
NC_000003.11:g.128621509C>A , CM000665.1:g.128621509C>A	GRCh37
NC_000003.10:g.130104199C>A	NCBI36
NG_017064.1:g.28177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.958+38C>A MANE Select	ENSP00000312618.7:n.958+38C>A
ENST00000511325.2:n.1036+38C>A
ENST00000679399.1:c.*852+38C>A	ENSP00000505434.1:n.*852+38C>A
ENST00000679431.1:c.*834+34C>A	ENSP00000506440.1:n.*834+34C>A
ENST00000679613.1:c.958+38C>A	ENSP00000504971.1:n.958+38C>A
ENST00000679715.1:c.589+38C>A	ENSP00000506228.1:n.589+38C>A
ENST00000679824.1:c.*2264+38C>A	ENSP00000505516.1:n.*2264+38C>A
ENST00000679990.1:n.1193+38C>A
ENST00000680636.1:c.958+38C>A	ENSP00000504886.1:n.958+38C>A
ENST00000680744.1:c.*311+38C>A	ENSP00000505243.1:n.*311+38C>A
ENST00000680764.1:c.*2362+34C>A	ENSP00000505126.1:n.*2362+34C>A
ENST00000681319.1:n.1036+38C>A
ENST00000681367.1:c.958+38C>A	ENSP00000505309.1:n.958+38C>A
ENST00000681552.1:c.958+38C>A	ENSP00000505699.1:n.958+38C>A
ENST00000681583.1:c.958+38C>A	ENSP00000506340.1:n.958+38C>A
ENST00000681585.1:c.958+38C>A	ENSP00000506316.1:n.958+38C>A
ENST00000681589.1:n.1172+38C>A
ENST00000681784.1:n.1036+38C>A
ENST00000681886.1:c.*151+38C>A	ENSP00000506500.1:n.*151+38C>A
ENST00000308982.11:c.958+38C>A	ENSP00000312618.7:n.958+38C>A
ENST00000505192.5:c.*654+38C>A	ENSP00000426277.1:n.*654+38C>A
ENST00000505867.5:c.*758+38C>A	ENSP00000425346.1:n.*758+38C>A
ENST00000508971.1:c.247+38C>A	ENSP00000422683.1:n.247+38C>A
ENST00000511227.5:c.*852+38C>A	ENSP00000425226.1:n.*852+38C>A
ENST00000511526.5:n.463+34C>A
NM_014049.4:c.958+38C>A	NP_054768.2:n.958+38C>A
NR_033426.1:n.1336+38C>A
XM_011512742.1:c.589+38C>A	XP_011511044.1:n.589+38C>A
XR_427367.1:n.1034+34C>A
XM_024453484.1:c.589+38C>A	XP_024309252.1:n.589+38C>A
XM_024453485.1:c.589+38C>A	XP_024309253.1:n.589+38C>A
XR_427367.3:n.1034+34C>A
NM_014049.5:c.958+38C>A MANE Select	NP_054768.2:n.958+38C>A
NR_033426.2:n.1206+38C>A