Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51374476C>T , CM000665.2:g.51374476C>T	GRCh38
NC_000003.11:g.51411907C>T , CM000665.1:g.51411907C>T	GRCh37
NC_000003.10:g.51386947C>T	NCBI36
NG_028012.1:g.704236C>T
NG_028012.2:g.704236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266037.10:c.5301C>T MANE Select	ENSP00000266037.8:p.Pro1767=
ENST00000266037.9:c.5301C>T	ENSP00000266037.8:p.Pro1767=
NM_004947.4:c.5301C>T	NP_004938.1:p.Pro1767=
XM_005264914.2:c.5301C>T	XP_005264971.1:p.Pro1767=
XM_005264915.2:c.5294-11C>T	XP_005264972.1:n.5294-11C>T
XM_005264916.2:c.5274C>T	XP_005264973.1:p.Pro1758=
XM_005264917.2:c.5259C>T	XP_005264974.1:p.Pro1753=
XM_005264918.2:c.5154C>T	XP_005264975.1:p.Pro1718=
XM_006713008.2:c.5238C>T	XP_006713071.1:p.Pro1746=
XM_006713009.2:c.5214C>T	XP_006713072.1:p.Pro1738=
XM_006713010.2:c.5301C>T	XP_006713073.1:p.Pro1767=
XM_011533441.1:c.4266C>T	XP_011531743.1:p.Pro1422=
XM_011533442.1:c.3051C>T	XP_011531744.1:p.Pro1017=
XM_011533443.1:c.2613C>T	XP_011531745.1:p.Pro871=
XM_011533444.1:c.2613C>T	XP_011531746.1:p.Pro871=
XM_011533445.1:c.2439C>T	XP_011531747.1:p.Pro813=
XM_005264914.3:c.5301C>T	XP_005264971.1:p.Pro1767=
XM_005264915.3:c.5294-11C>T	XP_005264972.1:n.5294-11C>T
XM_005264916.4:c.5274C>T	XP_005264973.1:p.Pro1758=
XM_005264917.3:c.5259C>T	XP_005264974.1:p.Pro1753=
XM_005264918.4:c.5154C>T	XP_005264975.1:p.Pro1718=
XM_006713008.3:c.5238C>T	XP_006713071.1:p.Pro1746=
XM_006713009.3:c.5214C>T	XP_006713072.1:p.Pro1738=
XM_006713010.3:c.5301C>T	XP_006713073.1:p.Pro1767=
XM_011533441.3:c.4266C>T	XP_011531743.1:p.Pro1422=
XM_011533443.2:c.2613C>T	XP_011531745.1:p.Pro871=
XM_011533444.2:c.2613C>T	XP_011531746.1:p.Pro871=
XM_011533445.2:c.2439C>T	XP_011531747.1:p.Pro813=
XM_017005825.2:c.5294-11C>T	XP_016861314.1:n.5294-11C>T
XM_017005826.2:c.5301C>T	XP_016861315.1:p.Pro1767=
XM_017005827.2:c.4488C>T	XP_016861316.1:p.Pro1496=
XM_017005828.1:c.2439C>T	XP_016861317.1:p.Pro813=
NM_004947.5:c.5301C>T MANE Select	NP_004938.1:p.Pro1767=