Canonical Allele Identifier: CA1951222

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168936427C>T , CM000664.2:g.168936427C>T	GRCh38
NC_000002.11:g.169792937C>T , CM000664.1:g.169792937C>T	GRCh37
NC_000002.10:g.169501183C>T	NCBI36
NG_007374.1:g.99897G>A
NG_007374.2:g.99970G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2617G>A MANE Select	NP_003733.2:p.Gly873Ser
ENST00000650372.1:c.2617G>A MANE Select	ENSP00000497931.1:p.Gly873Ser
NM_003742.2:c.2617G>A	NP_003733.2:p.Gly873Ser
ENST00000263817.6:c.2617G>A	ENSP00000263817.6:p.Gly873Ser
ENST00000439188.1:c.1306G>A	ENSP00000416058.1:n.1306G>A
ENST00000649448.1:c.934G>A	ENSP00000497165.1:p.Gly312Ser
XM_006712817.2:c.2659G>A	XP_006712880.1:p.Gly887Ser
XM_006712817.3:c.2659G>A	XP_006712880.1:p.Gly887Ser
XM_011512077.1:c.2719G>A	XP_011510379.1:p.Gly907Ser
XM_011512077.2:c.2719G>A	XP_011510379.1:p.Gly907Ser
XM_011512078.1:c.2719G>A	XP_011510380.1:p.Gly907Ser
XM_011512078.2:c.2719G>A	XP_011510380.1:p.Gly907Ser
XM_011512079.1:c.2719G>A	XP_011510381.1:p.Gly907Ser
XM_011512080.1:c.2713-74G>A	XP_011510382.1:n.2713-74G>A
XM_011512080.2:c.2713-74G>A	XP_011510382.1:n.2713-74G>A
XM_011512081.1:c.943G>A	XP_011510383.1:p.Gly315Ser
XM_011512081.2:c.943G>A	XP_011510383.1:p.Gly315Ser
XM_017005165.1:c.2719G>A	XP_016860654.1:p.Gly907Ser
XM_017005166.1:c.1948G>A	XP_016860655.1:p.Gly650Ser
XM_017005167.1:c.1402G>A	XP_016860656.1:p.Gly468Ser