Canonical Allele Identifier: CA429914471

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168970207G>A , CM000664.2:g.168970207G>A	GRCh38
NC_000002.11:g.169826717G>A , CM000664.1:g.169826717G>A	GRCh37
NC_000002.10:g.169534963G>A	NCBI36
NG_007374.1:g.66117C>T
NG_007374.2:g.66190C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1647C>T MANE Select	NP_003733.2:p.Asp549=
ENST00000650372.1:c.1647C>T MANE Select	ENSP00000497931.1:p.Asp549=
NM_003742.2:c.1647C>T	NP_003733.2:p.Asp549=
ENST00000263817.6:c.1647C>T	ENSP00000263817.6:p.Asp549=
ENST00000439188.1:c.336C>T	ENSP00000416058.1:n.336C>T
ENST00000478354.1:n.385C>T
XM_006712817.2:c.1689C>T	XP_006712880.1:p.Asp563=
XM_006712817.3:c.1689C>T	XP_006712880.1:p.Asp563=
XM_011512077.1:c.1749C>T	XP_011510379.1:p.Asp583=
XM_011512077.2:c.1749C>T	XP_011510379.1:p.Asp583=
XM_011512078.1:c.1749C>T	XP_011510380.1:p.Asp583=
XM_011512078.2:c.1749C>T	XP_011510380.1:p.Asp583=
XM_011512079.1:c.1749C>T	XP_011510381.1:p.Asp583=
XM_011512080.1:c.1749C>T	XP_011510382.1:p.Asp583=
XM_011512080.2:c.1749C>T	XP_011510382.1:p.Asp583=
XM_011512081.1:c.-28C>T	XP_011510383.1:n.-28C>T
XM_011512081.2:c.-28C>T	XP_011510383.1:n.-28C>T
XM_017005165.1:c.1749C>T	XP_016860654.1:p.Asp583=
XM_017005166.1:c.978C>T	XP_016860655.1:p.Asp326=
XM_017005167.1:c.432C>T	XP_016860656.1:p.Asp144=