Canonical Allele Identifier: CA429917255

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168993773G>A , CM000664.2:g.168993773G>A	GRCh38
NC_000002.11:g.169850283G>A , CM000664.1:g.169850283G>A	GRCh37
NC_000002.10:g.169558529G>A	NCBI36
NG_007374.1:g.42551C>T
NG_007374.2:g.42624C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.721C>T MANE Select	NP_003733.2:p.Leu241=
ENST00000650372.1:c.721C>T MANE Select	ENSP00000497931.1:p.Leu241=
NM_003742.2:c.721C>T	NP_003733.2:p.Leu241=
ENST00000263817.6:c.721C>T	ENSP00000263817.6:p.Leu241=
XM_006712817.2:c.763C>T	XP_006712880.1:p.Leu255=
XM_006712817.3:c.763C>T	XP_006712880.1:p.Leu255=
XM_011512077.1:c.823C>T	XP_011510379.1:p.Leu275=
XM_011512077.2:c.823C>T	XP_011510379.1:p.Leu275=
XM_011512078.1:c.823C>T	XP_011510380.1:p.Leu275=
XM_011512078.2:c.823C>T	XP_011510380.1:p.Leu275=
XM_011512079.1:c.823C>T	XP_011510381.1:p.Leu275=
XM_011512080.1:c.823C>T	XP_011510382.1:p.Leu275=
XM_011512080.2:c.823C>T	XP_011510382.1:p.Leu275=
XM_017005165.1:c.823C>T	XP_016860654.1:p.Leu275=
XM_017005166.1:c.52C>T	XP_016860655.1:p.Leu18=