Canonical Allele Identifier: CA501084

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168993817G>A , CM000664.2:g.168993817G>A	GRCh38
NC_000002.11:g.169850327G>A , CM000664.1:g.169850327G>A	GRCh37
NC_000002.10:g.169558573G>A	NCBI36
NG_007374.1:g.42507C>T
NG_007374.2:g.42580C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.677C>T MANE Select	NP_003733.2:p.Ser226Leu
ENST00000650372.1:c.677C>T MANE Select	ENSP00000497931.1:p.Ser226Leu
NM_003742.2:c.677C>T	NP_003733.2:p.Ser226Leu
ENST00000263817.6:c.677C>T	ENSP00000263817.6:p.Ser226Leu
XM_006712817.2:c.719C>T	XP_006712880.1:p.Ser240Leu
XM_006712817.3:c.719C>T	XP_006712880.1:p.Ser240Leu
XM_011512077.1:c.779C>T	XP_011510379.1:p.Ser260Leu
XM_011512077.2:c.779C>T	XP_011510379.1:p.Ser260Leu
XM_011512078.1:c.779C>T	XP_011510380.1:p.Ser260Leu
XM_011512078.2:c.779C>T	XP_011510380.1:p.Ser260Leu
XM_011512079.1:c.779C>T	XP_011510381.1:p.Ser260Leu
XM_011512080.1:c.779C>T	XP_011510382.1:p.Ser260Leu
XM_011512080.2:c.779C>T	XP_011510382.1:p.Ser260Leu
XM_017005165.1:c.779C>T	XP_016860654.1:p.Ser260Leu
XM_017005166.1:c.8C>T	XP_016860655.1:p.Ser3Leu