Canonical Allele Identifier: CA349122556

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932496C>G , CM000664.2:g.168932496C>G	GRCh38
NC_000002.11:g.169789006C>G , CM000664.1:g.169789006C>G	GRCh37
NC_000002.10:g.169497252C>G	NCBI36
NG_007374.1:g.103828G>C
NG_007374.2:g.103901G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3094G>C MANE Select	NP_003733.2:p.Gly1032Arg
ENST00000650372.1:c.3094G>C MANE Select	ENSP00000497931.1:p.Gly1032Arg
NM_003742.2:c.3094G>C	NP_003733.2:p.Gly1032Arg
ENST00000263817.6:c.3094G>C	ENSP00000263817.6:p.Gly1032Arg
ENST00000439188.1:c.1783G>C	ENSP00000416058.1:n.1783G>C
ENST00000647920.1:c.421G>C
ENST00000649448.1:c.1411G>C	ENSP00000497165.1:p.Gly471Arg
XM_006712817.2:c.3136G>C	XP_006712880.1:p.Gly1046Arg
XM_006712817.3:c.3136G>C	XP_006712880.1:p.Gly1046Arg
XM_011512077.1:c.3196G>C	XP_011510379.1:p.Gly1066Arg
XM_011512077.2:c.3196G>C	XP_011510379.1:p.Gly1066Arg
XM_011512078.1:c.3196G>C	XP_011510380.1:p.Gly1066Arg
XM_011512078.2:c.3196G>C	XP_011510380.1:p.Gly1066Arg
XM_011512079.1:c.3196G>C	XP_011510381.1:p.Gly1066Arg
XM_011512081.1:c.1420G>C	XP_011510383.1:p.Gly474Arg
XM_011512081.2:c.1420G>C	XP_011510383.1:p.Gly474Arg
XM_017005165.1:c.3196G>C	XP_016860654.1:p.Gly1066Arg
XM_017005166.1:c.2425G>C	XP_016860655.1:p.Gly809Arg
XM_017005167.1:c.1879G>C	XP_016860656.1:p.Gly627Arg