Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73946766G>A , CM000664.2:g.73946766G>A	GRCh38
NC_000002.11:g.74173893G>A , CM000664.1:g.74173893G>A	GRCh37
NC_000002.10:g.74027401G>A	NCBI36
NG_008044.1:g.24941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.303G>A MANE Select	ENSP00000264093.4:p.Arg101=
ENST00000264093.8:c.303G>A	ENSP00000264093.4:p.Arg101=
ENST00000348222.3:c.303G>A	ENSP00000306964.3:p.Arg101=
ENST00000418996.5:c.190G>A	ENSP00000408209.1:p.Gly64Arg
ENST00000462551.1:n.208G>A
ENST00000462685.1:n.290G>A
ENST00000489796.5:n.320G>A
ENST00000493055.1:n.306G>A
ENST00000629438.2:c.190G>A	ENSP00000487122.1:p.Gly64Arg
NM_080916.2:c.303G>A	NP_550438.1:p.Arg101=
NM_080918.2:c.303G>A	NP_550440.1:p.Arg101=
XM_005264173.2:c.12G>A	XP_005264230.1:p.Arg4=
XM_005264174.1:c.12G>A	XP_005264231.1:p.Arg4=
XM_011532647.1:c.303G>A	XP_011530949.1:p.Arg101=
XM_011532648.1:c.12G>A	XP_011530950.1:p.Arg4=
XR_244926.2:n.384G>A
NM_001318859.1:c.303G>A	NP_001305788.1:p.Arg101=
NM_001318860.1:c.12G>A	NP_001305789.1:p.Arg4=
NM_001318861.1:c.12G>A	NP_001305790.1:p.Arg4=
NM_001318862.1:c.12G>A	NP_001305791.1:p.Arg4=
NM_001318863.1:c.12G>A	NP_001305792.1:p.Arg4=
NR_134893.1:n.275G>A
NR_134894.1:n.275G>A
NR_134895.1:n.228-11380G>A
NR_134896.1:n.275G>A
NR_134897.1:n.361G>A
NR_134898.1:n.275G>A
XM_011532647.2:c.303G>A	XP_011530949.1:p.Arg101=
XM_024452739.1:c.12G>A	XP_024308507.1:p.Arg4=
XR_001738656.1:n.387G>A
XR_244926.3:n.386G>A
NM_080916.3:c.303G>A MANE Select	NP_550438.1:p.Arg101=
NM_001318859.2:c.303G>A	NP_001305788.1:p.Arg101=
NM_001318860.2:c.12G>A	NP_001305789.1:p.Arg4=
NM_001318861.2:c.12G>A	NP_001305790.1:p.Arg4=
NM_001318862.2:c.12G>A	NP_001305791.1:p.Arg4=
NM_001318863.2:c.12G>A	NP_001305792.1:p.Arg4=
NM_080918.3:c.303G>A	NP_550440.1:p.Arg101=
NR_134893.2:n.221G>A
NR_134894.2:n.221G>A
NR_134895.2:n.174-11380G>A
NR_134896.2:n.221G>A
NR_134897.2:n.307G>A
NR_134898.2:n.221G>A

Linked Data

Genomic Alleles

Transcript Alleles