Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36253528G>A , CM000684.2:g.36253528G>A	GRCh38
NC_000022.10:g.36649574G>A , CM000684.1:g.36649574G>A	GRCh37
NC_000022.9:g.34979520G>A	NCBI36
NG_023228.1:g.5458G>A , LRG_169:g.5458G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003661.4:c.-20+309G>A MANE Select	NP_003652.2:n.-20+309G>A
ENST00000397278.8:c.-20+309G>A MANE Select	ENSP00000380448.4:n.-20+309G>A
NM_001136540.1:c.-59+309G>A	NP_001130012.1:n.-59+309G>A
NM_001136540.2:c.-59+309G>A	NP_001130012.1:n.-59+309G>A
NM_001136541.1:c.-20+309G>A	NP_001130013.1:n.-20+309G>A
NM_001136541.2:c.-20+309G>A	NP_001130013.1:n.-20+309G>A
NM_001362927.1:c.-59+309G>A	NP_001349856.1:n.-59+309G>A
NM_001362927.2:c.-59+309G>A	NP_001349856.1:n.-59+309G>A
NM_003661.3:c.-20+309G>A	NP_003652.2:n.-20+309G>A
NM_145343.2:c.-125-310G>A , LRG_169t1:c.-125-310G>A	NP_663318.1:n.-125-310G>A
NM_145343.3:c.-125-310G>A	NP_663318.1:n.-125-310G>A
ENST00000319136.8:c.-125-310G>A	ENSP00000317674.4:n.-125-310G>A
ENST00000397278.7:c.-20+309G>A	ENSP00000380448.3:n.-20+309G>A
ENST00000397279.8:c.-20+309G>A	ENSP00000380449.4:n.-20+309G>A
ENST00000422471.5:c.-20+309G>A	ENSP00000391206.1:n.-20+309G>A
ENST00000422706.5:c.-59+309G>A	ENSP00000411507.1:n.-59+309G>A
ENST00000426053.5:c.-20+309G>A	ENSP00000388477.1:n.-20+309G>A
ENST00000427990.5:c.-59+309G>A	ENSP00000391302.1:n.-59+309G>A
ENST00000427990.6:c.-59+309G>A	ENSP00000391302.2:n.-59+309G>A
ENST00000431184.1:c.-20+309G>A	ENSP00000392857.1:n.-20+309G>A
ENST00000433768.5:c.-59+309G>A	ENSP00000392514.1:n.-59+309G>A
ENST00000433768.6:c.-59+309G>A	ENSP00000392514.1:n.-59+309G>A
ENST00000438034.5:c.-125-310G>A	ENSP00000404525.1:n.-125-310G>A
ENST00000438034.6:c.-125-310G>A	ENSP00000404525.2:n.-125-310G>A
ENST00000439680.5:c.-20+309G>A	ENSP00000397141.1:n.-20+309G>A
ENST00000475519.5:n.88-310G>A
XM_005261796.2:c.-59+309G>A	XP_005261853.1:n.-59+309G>A
XM_011530478.1:c.-517+309G>A	XP_011528780.1:n.-517+309G>A
XM_011530478.2:c.-517+309G>A	XP_011528780.1:n.-517+309G>A