Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436538T>A , CM000682.2:g.32436538T>A	GRCh38
NC_000020.10:g.31024341T>A , CM000682.1:g.31024341T>A	GRCh37
NC_000020.9:g.30488002T>A	NCBI36
NG_027868.1:g.83195T>A , LRG_630:g.83195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3826T>A MANE Select	ENSP00000364839.4:p.Ser1276Thr
ENST00000646985.1:c.3643T>A	ENSP00000495053.1:p.Ser1215Thr
ENST00000647223.1:n.6179T>A
ENST00000651418.1:c.1870-1892T>A	ENSP00000499150.1:n.1870-1892T>A
ENST00000306058.9:c.3811T>A	ENSP00000305119.5:p.Ser1271Thr
ENST00000375687.8:c.3826T>A	ENSP00000364839.4:p.Ser1276Thr
ENST00000613218.4:c.3826T>A	ENSP00000480487.1:p.Ser1276Thr
ENST00000620121.4:c.3826T>A	ENSP00000481978.1:p.Ser1276Thr
NM_015338.5:c.3826T>A , LRG_630t1:c.3826T>A	NP_056153.2:p.Ser1276Thr
XM_006723727.2:c.3823T>A	XP_006723790.1:p.Ser1275Thr
XM_006723728.2:c.3796T>A	XP_006723791.1:p.Ser1266Thr
XM_006723730.2:c.3742T>A	XP_006723793.1:p.Ser1248Thr
XM_006723732.2:c.3643T>A	XP_006723795.1:p.Ser1215Thr
XM_006723733.1:c.3142T>A	XP_006723796.1:p.Ser1048Thr
XM_011528647.1:c.4090T>A	XP_011526949.1:p.Ser1364Thr
XM_011528648.1:c.4087T>A	XP_011526950.1:p.Ser1363Thr
XM_011528649.1:c.4006T>A	XP_011526951.1:p.Ser1336Thr
XM_011528650.1:c.3937T>A	XP_011526952.1:p.Ser1313Thr
XM_011528651.1:c.3805T>A	XP_011526953.1:p.Ser1269Thr
XM_011528652.1:c.3742T>A	XP_011526954.1:p.Ser1248Thr
NM_001363734.1:c.3643T>A	NP_001350663.1:p.Ser1215Thr
XM_006723727.3:c.3823T>A	XP_006723790.1:p.Ser1275Thr
XM_006723728.3:c.3796T>A	XP_006723791.1:p.Ser1266Thr
XM_006723730.4:c.3742T>A	XP_006723793.1:p.Ser1248Thr
XM_011528648.3:c.4087T>A	XP_011526950.1:p.Ser1363Thr
XM_011528652.2:c.3742T>A	XP_011526954.1:p.Ser1248Thr
XM_017027704.1:c.3742T>A	XP_016883193.1:p.Ser1248Thr
XM_017027705.1:c.3742T>A	XP_016883194.1:p.Ser1248Thr
XM_017027706.1:c.3673T>A	XP_016883195.1:p.Ser1225Thr
NM_015338.6:c.3826T>A MANE Select	NP_056153.2:p.Ser1276Thr

Linked Data

Genomic Alleles

Transcript Alleles