Canonical Allele Identifier: CA349107252

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169018049C>T , CM000664.2:g.169018049C>T	GRCh38
NC_000002.11:g.169874559C>T , CM000664.1:g.169874559C>T	GRCh37
NC_000002.10:g.169582805C>T	NCBI36
NG_007374.1:g.18275G>A
NG_007374.2:g.18348G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.76+1G>A MANE Select	NP_003733.2:n.76+1G>A
ENST00000650372.1:c.76+1G>A MANE Select	ENSP00000497931.1:n.76+1G>A
NM_003742.2:c.76+1G>A	NP_003733.2:n.76+1G>A
ENST00000263817.6:c.76+1G>A	ENSP00000263817.6:n.76+1G>A
XM_006712817.2:c.77G>A	XP_006712880.1:p.Cys26Tyr
XM_006712817.3:c.77G>A	XP_006712880.1:p.Cys26Tyr
XM_011512077.1:c.77G>A	XP_011510379.1:p.Cys26Tyr
XM_011512077.2:c.77G>A	XP_011510379.1:p.Cys26Tyr
XM_011512078.1:c.77G>A	XP_011510380.1:p.Cys26Tyr
XM_011512078.2:c.77G>A	XP_011510380.1:p.Cys26Tyr
XM_011512079.1:c.77G>A	XP_011510381.1:p.Cys26Tyr
XM_011512080.1:c.77G>A	XP_011510382.1:p.Cys26Tyr
XM_011512080.2:c.77G>A	XP_011510382.1:p.Cys26Tyr
XM_017005165.1:c.77G>A	XP_016860654.1:p.Cys26Tyr