Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151660836C>A , CM000663.2:g.151660836C>A	GRCh38
NC_000001.10:g.151633312C>A , CM000663.1:g.151633312C>A	GRCh37
NC_000001.9:g.149899936C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368838.2:c.372C>A
ENST00000368841.7:c.*446C>A	ENSP00000357834.2:n.*446C>A
ENST00000368843.8:c.775C>A	ENSP00000357836.3:p.Gln259Lys
ENST00000458013.7:c.775C>A MANE Select	ENSP00000400333.2:p.Gln259Lys
ENST00000482791.2:c.98C>A
ENST00000642349.1:c.509C>A	ENSP00000494331.1:n.509C>A
ENST00000642376.1:c.412C>A	ENSP00000496645.1:p.Gln138Lys
ENST00000642479.1:c.*153C>A	ENSP00000496775.1:n.*153C>A
ENST00000643179.1:n.583C>A
ENST00000643814.1:n.496C>A
ENST00000643845.1:n.232C>A
ENST00000643937.1:n.453C>A
ENST00000644113.1:n.459C>A
ENST00000644970.1:n.773C>A
ENST00000647328.1:n.496C>A
ENST00000647454.1:n.224C>A
ENST00000368838.1:c.496C>A	ENSP00000357831.1:p.Gln166Lys
ENST00000368841.6:c.*446C>A	ENSP00000357834.2:n.*446C>A
ENST00000368843.7:c.775C>A	ENSP00000357836.3:p.Gln259Lys
ENST00000458013.6:c.775C>A	ENSP00000400333.2:p.Gln259Lys
NM_030918.5:c.775C>A	NP_112180.4:p.Gln259Lys
XM_005245509.1:c.775C>A	XP_005245566.1:p.Gln259Lys
XM_005245510.2:c.466C>A	XP_005245567.1:p.Gln156Lys
XM_005245511.3:c.217C>A	XP_005245568.1:p.Gln73Lys
XM_011510024.1:c.472C>A	XP_011508326.1:p.Gln158Lys
XM_011510025.1:c.412C>A	XP_011508327.1:p.Gln138Lys
XM_011510026.1:c.775C>A	XP_011508328.1:p.Gln259Lys
NM_001330723.1:c.775C>A	NP_001317652.1:p.Gln259Lys
XM_005245510.3:c.466C>A	XP_005245567.1:p.Gln156Lys
XM_005245511.4:c.217C>A	XP_005245568.1:p.Gln73Lys
XM_011510024.2:c.472C>A	XP_011508326.1:p.Gln158Lys
XM_011510025.2:c.412C>A	XP_011508327.1:p.Gln138Lys
XM_011510026.2:c.775C>A	XP_011508328.1:p.Gln259Lys
XM_017002417.1:c.412C>A	XP_016857906.1:p.Gln138Lys
XM_024450038.1:c.217C>A	XP_024305806.1:p.Gln73Lys
XM_024450039.1:c.217C>A	XP_024305807.1:p.Gln73Lys
NM_001330723.2:c.775C>A MANE Select	NP_001317652.1:p.Gln259Lys
NM_030918.6:c.775C>A	NP_112180.4:p.Gln259Lys