Canonical Allele Identifier: CA349132082

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168995471C>T , CM000664.2:g.168995471C>T	GRCh38
NC_000002.11:g.169851981C>T , CM000664.1:g.169851981C>T	GRCh37
NC_000002.10:g.169560227C>T	NCBI36
NG_007374.1:g.40853G>A
NG_007374.2:g.40926G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.489G>A MANE Select	NP_003733.2:p.Trp163Ter
ENST00000650372.1:c.489G>A MANE Select	ENSP00000497931.1:p.Trp163Ter
NM_003742.2:c.489G>A	NP_003733.2:p.Trp163Ter
ENST00000263817.6:c.489G>A	ENSP00000263817.6:p.Trp163Ter
XM_006712817.2:c.531G>A	XP_006712880.1:p.Trp177Ter
XM_006712817.3:c.531G>A	XP_006712880.1:p.Trp177Ter
XM_011512077.1:c.591G>A	XP_011510379.1:p.Trp197Ter
XM_011512077.2:c.591G>A	XP_011510379.1:p.Trp197Ter
XM_011512078.1:c.591G>A	XP_011510380.1:p.Trp197Ter
XM_011512078.2:c.591G>A	XP_011510380.1:p.Trp197Ter
XM_011512079.1:c.591G>A	XP_011510381.1:p.Trp197Ter
XM_011512080.1:c.591G>A	XP_011510382.1:p.Trp197Ter
XM_011512080.2:c.591G>A	XP_011510382.1:p.Trp197Ter
XM_017005165.1:c.591G>A	XP_016860654.1:p.Trp197Ter