Canonical Allele Identifier: CA1951863

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168995477G>T , CM000664.2:g.168995477G>T	GRCh38
NC_000002.11:g.169851987G>T , CM000664.1:g.169851987G>T	GRCh37
NC_000002.10:g.169560233G>T	NCBI36
NG_007374.1:g.40847C>A
NG_007374.2:g.40920C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.483C>A MANE Select	NP_003733.2:p.Cys161Ter
ENST00000650372.1:c.483C>A MANE Select	ENSP00000497931.1:p.Cys161Ter
NM_003742.2:c.483C>A	NP_003733.2:p.Cys161Ter
ENST00000263817.6:c.483C>A	ENSP00000263817.6:p.Cys161Ter
XM_006712817.2:c.525C>A	XP_006712880.1:p.Cys175Ter
XM_006712817.3:c.525C>A	XP_006712880.1:p.Cys175Ter
XM_011512077.1:c.585C>A	XP_011510379.1:p.Cys195Ter
XM_011512077.2:c.585C>A	XP_011510379.1:p.Cys195Ter
XM_011512078.1:c.585C>A	XP_011510380.1:p.Cys195Ter
XM_011512078.2:c.585C>A	XP_011510380.1:p.Cys195Ter
XM_011512079.1:c.585C>A	XP_011510381.1:p.Cys195Ter
XM_011512080.1:c.585C>A	XP_011510382.1:p.Cys195Ter
XM_011512080.2:c.585C>A	XP_011510382.1:p.Cys195Ter
XM_017005165.1:c.585C>A	XP_016860654.1:p.Cys195Ter