Canonical Allele Identifier: CA1951811

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168993796A>G , CM000664.2:g.168993796A>G	GRCh38
NC_000002.11:g.169850306A>G , CM000664.1:g.169850306A>G	GRCh37
NC_000002.10:g.169558552A>G	NCBI36
NG_007374.1:g.42528T>C
NG_007374.2:g.42601T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.698T>C MANE Select	NP_003733.2:p.Leu233Ser
ENST00000650372.1:c.698T>C MANE Select	ENSP00000497931.1:p.Leu233Ser
NM_003742.2:c.698T>C	NP_003733.2:p.Leu233Ser
ENST00000263817.6:c.698T>C	ENSP00000263817.6:p.Leu233Ser
XM_006712817.2:c.740T>C	XP_006712880.1:p.Leu247Ser
XM_006712817.3:c.740T>C	XP_006712880.1:p.Leu247Ser
XM_011512077.1:c.800T>C	XP_011510379.1:p.Leu267Ser
XM_011512077.2:c.800T>C	XP_011510379.1:p.Leu267Ser
XM_011512078.1:c.800T>C	XP_011510380.1:p.Leu267Ser
XM_011512078.2:c.800T>C	XP_011510380.1:p.Leu267Ser
XM_011512079.1:c.800T>C	XP_011510381.1:p.Leu267Ser
XM_011512080.1:c.800T>C	XP_011510382.1:p.Leu267Ser
XM_011512080.2:c.800T>C	XP_011510382.1:p.Leu267Ser
XM_017005165.1:c.800T>C	XP_016860654.1:p.Leu267Ser
XM_017005166.1:c.29T>C	XP_016860655.1:p.Leu10Ser