Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123254C>T , CM000684.2:g.38123254C>T	GRCh38
NC_000022.10:g.38519261C>T , CM000684.1:g.38519261C>T	GRCh37
NC_000022.9:g.36849207C>T	NCBI36
NG_007094.2:g.87437G>A
NG_007094.3:g.96525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1432G>A MANE Select	ENSP00000333142.3:p.Asp478Asn
ENST00000427114.6:c.736G>A	ENSP00000407743.2:p.Asp246Asn
ENST00000436218.6:c.*630G>A	ENSP00000401242.1:n.*630G>A
ENST00000655142.1:c.*290G>A	ENSP00000499715.1:n.*290G>A
ENST00000660610.1:c.1432G>A	ENSP00000499555.1:p.Asp478Asn
ENST00000663895.1:c.1432G>A	ENSP00000499712.1:p.Asp478Asn
ENST00000664587.1:c.1294G>A	ENSP00000499394.1:p.Asp432Asn
ENST00000665987.1:c.*1171G>A	ENSP00000499423.1:n.*1171G>A
ENST00000667521.1:c.1432G>A	ENSP00000499665.1:p.Asp478Asn
ENST00000668208.1:n.1400G>A
ENST00000668499.1:c.*1154G>A	ENSP00000499626.1:n.*1154G>A
ENST00000668949.1:c.1270G>A	ENSP00000499711.1:p.Asp424Asn
ENST00000671093.1:n.1364G>A
ENST00000673413.1:c.*1101G>A	ENSP00000500600.1:n.*1101G>A
ENST00000332509.7:c.1432G>A	ENSP00000333142.3:p.Asp478Asn
ENST00000335539.7:c.1270G>A	ENSP00000335149.3:p.Asp424Asn
ENST00000402064.5:c.1270G>A	ENSP00000386100.1:p.Asp424Asn
ENST00000448094.5:c.*37G>A	ENSP00000407106.1:n.*37G>A
ENST00000454670.1:c.77G>A
ENST00000490473.1:n.551G>A
ENST00000491986.1:n.443G>A
NM_001004426.1:c.1270G>A	NP_001004426.1:p.Asp424Asn
NM_001199562.1:c.1270G>A	NP_001186491.1:p.Asp424Asn
NM_003560.2:c.1432G>A	NP_003551.2:p.Asp478Asn
XM_005261764.1:c.1432G>A	XP_005261821.1:p.Asp478Asn
XM_005261765.1:c.1432G>A	XP_005261822.1:p.Asp478Asn
XM_005261766.1:c.1432G>A	XP_005261823.1:p.Asp478Asn
XM_006724332.2:c.1432G>A	XP_006724395.1:p.Asp478Asn
XM_011530422.1:c.1327G>A	XP_011528724.1:p.Asp443Asn
XM_011530423.1:c.898G>A	XP_011528725.1:p.Asp300Asn
XM_011530424.1:c.898G>A	XP_011528726.1:p.Asp300Asn
XM_011530425.1:c.898G>A	XP_011528727.1:p.Asp300Asn
XM_011530426.1:c.1432G>A	XP_011528728.1:p.Asp478Asn
XR_244390.1:n.1540G>A
XR_244392.1:n.1593G>A
XR_430411.1:n.1592G>A
XR_430412.1:n.1645G>A
XR_937937.1:n.1540G>A
XR_937938.1:n.1540G>A
XR_937939.1:n.1592G>A
XR_937940.1:n.1592G>A
NM_001004426.2:c.1270G>A	NP_001004426.1:p.Asp424Asn
NM_001199562.2:c.1270G>A	NP_001186491.1:p.Asp424Asn
NM_001349864.1:c.1432G>A	NP_001336793.1:p.Asp478Asn
NM_001349865.1:c.1270G>A	NP_001336794.1:p.Asp424Asn
NM_001349866.1:c.1270G>A	NP_001336795.1:p.Asp424Asn
NM_001349867.1:c.898G>A	NP_001336796.1:p.Asp300Asn
NM_001349868.1:c.754G>A	NP_001336797.1:p.Asp252Asn
NM_001349869.1:c.736G>A	NP_001336798.1:p.Asp246Asn
NM_003560.3:c.1432G>A	NP_003551.2:p.Asp478Asn
XM_005261764.3:c.1432G>A	XP_005261821.1:p.Asp478Asn
XM_005261765.2:c.1432G>A	XP_005261822.1:p.Asp478Asn
XM_006724332.4:c.1432G>A	XP_006724395.1:p.Asp478Asn
XM_011530426.3:c.1432G>A	XP_011528728.1:p.Asp478Asn
XM_017028983.1:c.736G>A	XP_016884472.1:p.Asp246Asn
XM_017028986.2:c.1270G>A	XP_016884475.1:p.Asp424Asn
XM_017028987.2:c.*37G>A	XP_016884476.1:n.*37G>A
XM_017028988.2:c.*45G>A	XP_016884477.1:n.*45G>A
XM_024452280.1:c.898G>A	XP_024308048.1:p.Asp300Asn
XM_024452281.1:c.898G>A	XP_024308049.1:p.Asp300Asn
XM_024452282.1:c.898G>A	XP_024308050.1:p.Asp300Asn
XM_024452283.1:c.754G>A	XP_024308051.1:p.Asp252Asn
XM_024452284.1:c.736G>A	XP_024308052.1:p.Asp246Asn
XM_024452285.1:c.736G>A	XP_024308053.1:p.Asp246Asn
XR_001755325.2:n.1524G>A
XR_001755327.2:n.1524G>A
XR_001755328.2:n.1576G>A
XR_244390.3:n.1524G>A
XR_937938.3:n.1524G>A
XR_937939.3:n.1576G>A
XR_937940.3:n.1576G>A
NM_001199562.3:c.1270G>A	NP_001186491.1:p.Asp424Asn
NM_001349864.2:c.1432G>A	NP_001336793.1:p.Asp478Asn
NM_001349865.2:c.1270G>A	NP_001336794.1:p.Asp424Asn
NM_001349866.2:c.1270G>A	NP_001336795.1:p.Asp424Asn
NM_001349867.2:c.898G>A	NP_001336796.1:p.Asp300Asn
NM_001349868.2:c.754G>A	NP_001336797.1:p.Asp252Asn
NM_001349869.2:c.736G>A	NP_001336798.1:p.Asp246Asn
NM_003560.4:c.1432G>A MANE Select	NP_003551.2:p.Asp478Asn
NM_001004426.3:c.1270G>A	NP_001004426.1:p.Asp424Asn

Linked Data

Genomic Alleles

Transcript Alleles