Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151658412G>A , CM000663.2:g.151658412G>A	GRCh38
NC_000001.10:g.151630888G>A , CM000663.1:g.151630888G>A	GRCh37
NC_000001.9:g.149897512G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368838.2:c.318G>A
ENST00000368841.7:c.*392G>A	ENSP00000357834.2:n.*392G>A
ENST00000368843.8:c.721G>A	ENSP00000357836.3:p.Glu241Lys
ENST00000458013.7:c.721G>A MANE Select	ENSP00000400333.2:p.Glu241Lys
ENST00000482791.2:c.44G>A
ENST00000642349.1:c.455G>A	ENSP00000494331.1:n.455G>A
ENST00000642376.1:c.358G>A	ENSP00000496645.1:p.Glu120Lys
ENST00000642479.1:c.*99G>A	ENSP00000496775.1:n.*99G>A
ENST00000642582.1:n.437G>A
ENST00000643179.1:n.529G>A
ENST00000643814.1:n.442G>A
ENST00000643845.1:n.178G>A
ENST00000644113.1:n.405G>A
ENST00000644970.1:n.719G>A
ENST00000647328.1:n.442G>A
ENST00000647454.1:n.170G>A
ENST00000368838.1:c.442G>A	ENSP00000357831.1:p.Glu148Lys
ENST00000368841.6:c.*392G>A	ENSP00000357834.2:n.*392G>A
ENST00000368843.7:c.721G>A	ENSP00000357836.3:p.Glu241Lys
ENST00000458013.6:c.721G>A	ENSP00000400333.2:p.Glu241Lys
NM_030918.5:c.721G>A	NP_112180.4:p.Glu241Lys
XM_005245509.1:c.721G>A	XP_005245566.1:p.Glu241Lys
XM_005245510.2:c.412G>A	XP_005245567.1:p.Glu138Lys
XM_005245511.3:c.163G>A	XP_005245568.1:p.Glu55Lys
XM_011510024.1:c.418G>A	XP_011508326.1:p.Glu140Lys
XM_011510025.1:c.358G>A	XP_011508327.1:p.Glu120Lys
XM_011510026.1:c.721G>A	XP_011508328.1:p.Glu241Lys
NM_001330723.1:c.721G>A	NP_001317652.1:p.Glu241Lys
XM_005245510.3:c.412G>A	XP_005245567.1:p.Glu138Lys
XM_005245511.4:c.163G>A	XP_005245568.1:p.Glu55Lys
XM_011510024.2:c.418G>A	XP_011508326.1:p.Glu140Lys
XM_011510025.2:c.358G>A	XP_011508327.1:p.Glu120Lys
XM_011510026.2:c.721G>A	XP_011508328.1:p.Glu241Lys
XM_017002417.1:c.358G>A	XP_016857906.1:p.Glu120Lys
XM_024450038.1:c.163G>A	XP_024305806.1:p.Glu55Lys
XM_024450039.1:c.163G>A	XP_024305807.1:p.Glu55Lys
NM_001330723.2:c.721G>A MANE Select	NP_001317652.1:p.Glu241Lys
NM_030918.6:c.721G>A	NP_112180.4:p.Glu241Lys