Canonical Allele Identifier: CA1951545

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168971935C>T , CM000664.2:g.168971935C>T	GRCh38
NC_000002.11:g.169828445C>T , CM000664.1:g.169828445C>T	GRCh37
NC_000002.10:g.169536691C>T	NCBI36
NG_007374.1:g.64389G>A
NG_007374.2:g.64462G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1550G>A MANE Select	NP_003733.2:p.Arg517His
ENST00000650372.1:c.1550G>A MANE Select	ENSP00000497931.1:p.Arg517His
NM_003742.2:c.1550G>A	NP_003733.2:p.Arg517His
ENST00000263817.6:c.1550G>A	ENSP00000263817.6:p.Arg517His
ENST00000439188.1:c.98G>A	ENSP00000416058.1:p.Arg33His
XM_006712817.2:c.1592G>A	XP_006712880.1:p.Arg531His
XM_006712817.3:c.1592G>A	XP_006712880.1:p.Arg531His
XM_011512077.1:c.1652G>A	XP_011510379.1:p.Arg551His
XM_011512077.2:c.1652G>A	XP_011510379.1:p.Arg551His
XM_011512078.1:c.1652G>A	XP_011510380.1:p.Arg551His
XM_011512078.2:c.1652G>A	XP_011510380.1:p.Arg551His
XM_011512079.1:c.1652G>A	XP_011510381.1:p.Arg551His
XM_011512080.1:c.1652G>A	XP_011510382.1:p.Arg551His
XM_011512080.2:c.1652G>A	XP_011510382.1:p.Arg551His
XM_011512081.1:c.-266G>A	XP_011510383.1:n.-266G>A
XM_011512081.2:c.-266G>A	XP_011510383.1:n.-266G>A
XM_017005165.1:c.1652G>A	XP_016860654.1:p.Arg551His
XM_017005166.1:c.881G>A	XP_016860655.1:p.Arg294His
XM_017005167.1:c.335G>A	XP_016860656.1:p.Arg112His