Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32429343C>A , CM000682.2:g.32429343C>A	GRCh38
NC_000020.10:g.31017146C>A , CM000682.1:g.31017146C>A	GRCh37
NC_000020.9:g.30480807C>A	NCBI36
NG_027868.1:g.76000C>A , LRG_630:g.76000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.477C>A MANE Select	ENSP00000364839.4:p.Asn159Lys
ENST00000470145.3:n.496C>A
ENST00000643168.1:c.393C>A	ENSP00000495003.1:p.Asn131Lys
ENST00000644587.1:c.*316C>A	ENSP00000494813.1:n.*316C>A
ENST00000644615.1:n.181C>A
ENST00000646985.1:c.447C>A	ENSP00000495053.1:p.Asn149Lys
ENST00000647223.1:n.580C>A
ENST00000651418.1:c.477C>A	ENSP00000499150.1:p.Asn159Lys
ENST00000306058.9:c.462C>A	ENSP00000305119.5:p.Asn154Lys
ENST00000375687.8:c.477C>A	ENSP00000364839.4:p.Asn159Lys
ENST00000470145.2:n.496C>A
ENST00000613218.4:c.477C>A	ENSP00000480487.1:p.Asn159Lys
ENST00000620121.4:c.477C>A	ENSP00000481978.1:p.Asn159Lys
NM_015338.5:c.477C>A , LRG_630t1:c.477C>A	NP_056153.2:p.Asn159Lys
XM_006723727.2:c.474C>A	XP_006723790.1:p.Asn158Lys
XM_006723728.2:c.447C>A	XP_006723791.1:p.Asn149Lys
XM_006723730.2:c.393C>A	XP_006723793.1:p.Asn131Lys
XM_006723732.2:c.447C>A	XP_006723795.1:p.Asn149Lys
XM_011528647.1:c.741C>A	XP_011526949.1:p.Asn247Lys
XM_011528648.1:c.738C>A	XP_011526950.1:p.Asn246Lys
XM_011528649.1:c.657C>A	XP_011526951.1:p.Asn219Lys
XM_011528650.1:c.741C>A	XP_011526952.1:p.Asn247Lys
XM_011528651.1:c.456C>A	XP_011526953.1:p.Asn152Lys
XM_011528652.1:c.393C>A	XP_011526954.1:p.Asn131Lys
NM_001363734.1:c.447C>A	NP_001350663.1:p.Asn149Lys
XM_006723727.3:c.474C>A	XP_006723790.1:p.Asn158Lys
XM_006723728.3:c.447C>A	XP_006723791.1:p.Asn149Lys
XM_006723730.4:c.393C>A	XP_006723793.1:p.Asn131Lys
XM_011528648.3:c.738C>A	XP_011526950.1:p.Asn246Lys
XM_011528652.2:c.393C>A	XP_011526954.1:p.Asn131Lys
XM_017027704.1:c.393C>A	XP_016883193.1:p.Asn131Lys
XM_017027705.1:c.393C>A	XP_016883194.1:p.Asn131Lys
XM_017027706.1:c.477C>A	XP_016883195.1:p.Asn159Lys
NM_015338.6:c.477C>A MANE Select	NP_056153.2:p.Asn159Lys