Canonical Allele Identifier: CA429912323

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923637T>A , CM000664.2:g.168923637T>A	GRCh38
NC_000002.11:g.169780147T>A , CM000664.1:g.169780147T>A	GRCh37
NC_000002.10:g.169488393T>A	NCBI36
NG_007374.1:g.112687A>T
NG_007374.2:g.112760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1020A>T
ENST00000649448.1:c.2328A>T	ENSP00000497165.1:p.Gly776=
ENST00000650372.1:c.3951A>T MANE Select	ENSP00000497931.1:p.Gly1317=
ENST00000263817.6:c.3951A>T	ENSP00000263817.6:p.Gly1317=
ENST00000439188.1:c.2568A>T	ENSP00000416058.1:n.2568A>T
NM_003742.2:c.3951A>T	NP_003733.2:p.Gly1317=
XM_006712817.2:c.3993A>T	XP_006712880.1:p.Gly1331=
XM_011512077.1:c.4053A>T	XP_011510379.1:p.Gly1351=
XM_011512078.1:c.4053A>T	XP_011510380.1:p.Gly1351=
XM_011512079.1:c.4053A>T	XP_011510381.1:p.Gly1351=
XM_011512081.1:c.2277A>T	XP_011510383.1:p.Gly759=
NM_003742.4:c.3951A>T MANE Select	NP_003733.2:p.Gly1317=
XM_006712817.3:c.3993A>T	XP_006712880.1:p.Gly1331=
XM_011512077.2:c.4053A>T	XP_011510379.1:p.Gly1351=
XM_011512078.2:c.4053A>T	XP_011510380.1:p.Gly1351=
XM_011512081.2:c.2277A>T	XP_011510383.1:p.Gly759=
XM_017005165.1:c.3867+1020A>T	XP_016860654.1:n.3867+1020A>T
XM_017005166.1:c.3282A>T	XP_016860655.1:p.Gly1094=
XM_017005167.1:c.2736A>T	XP_016860656.1:p.Gly912=