Canonical Allele Identifier: CA349115405

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168971881G>T , CM000664.2:g.168971881G>T	GRCh38
NC_000002.11:g.169828391G>T , CM000664.1:g.169828391G>T	GRCh37
NC_000002.10:g.169536637G>T	NCBI36
NG_007374.1:g.64443C>A
NG_007374.2:g.64516C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1604C>A MANE Select	NP_003733.2:p.Ala535Asp
ENST00000650372.1:c.1604C>A MANE Select	ENSP00000497931.1:p.Ala535Asp
NM_003742.2:c.1604C>A	NP_003733.2:p.Ala535Asp
ENST00000263817.6:c.1604C>A	ENSP00000263817.6:p.Ala535Asp
ENST00000439188.1:c.152C>A	ENSP00000416058.1:p.Ala51Asp
XM_006712817.2:c.1646C>A	XP_006712880.1:p.Ala549Asp
XM_006712817.3:c.1646C>A	XP_006712880.1:p.Ala549Asp
XM_011512077.1:c.1706C>A	XP_011510379.1:p.Ala569Asp
XM_011512077.2:c.1706C>A	XP_011510379.1:p.Ala569Asp
XM_011512078.1:c.1706C>A	XP_011510380.1:p.Ala569Asp
XM_011512078.2:c.1706C>A	XP_011510380.1:p.Ala569Asp
XM_011512079.1:c.1706C>A	XP_011510381.1:p.Ala569Asp
XM_011512080.1:c.1706C>A	XP_011510382.1:p.Ala569Asp
XM_011512080.2:c.1706C>A	XP_011510382.1:p.Ala569Asp
XM_011512081.1:c.-212C>A	XP_011510383.1:n.-212C>A
XM_011512081.2:c.-212C>A	XP_011510383.1:n.-212C>A
XM_017005165.1:c.1706C>A	XP_016860654.1:p.Ala569Asp
XM_017005166.1:c.935C>A	XP_016860655.1:p.Ala312Asp
XM_017005167.1:c.389C>A	XP_016860656.1:p.Ala130Asp