Canonical Allele Identifier: CA253879

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169014300T>G , CM000664.2:g.169014300T>G	GRCh38
NC_000002.11:g.169870810T>G , CM000664.1:g.169870810T>G	GRCh37
NC_000002.10:g.169579056T>G	NCBI36
NG_007374.1:g.22024A>C
NG_007374.2:g.22097A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.150+3A>C MANE Select	NP_003733.2:n.150+3A>C
ENST00000650372.1:c.150+3A>C MANE Select	ENSP00000497931.1:n.150+3A>C
NM_003742.2:c.150+3A>C	NP_003733.2:n.150+3A>C
ENST00000263817.6:c.150+3A>C	ENSP00000263817.6:n.150+3A>C
XM_006712817.2:c.192+3A>C	XP_006712880.1:n.192+3A>C
XM_006712817.3:c.192+3A>C	XP_006712880.1:n.192+3A>C
XM_011512077.1:c.252+3A>C	XP_011510379.1:n.252+3A>C
XM_011512077.2:c.252+3A>C	XP_011510379.1:n.252+3A>C
XM_011512078.1:c.252+3A>C	XP_011510380.1:n.252+3A>C
XM_011512078.2:c.252+3A>C	XP_011510380.1:n.252+3A>C
XM_011512079.1:c.252+3A>C	XP_011510381.1:n.252+3A>C
XM_011512080.1:c.252+3A>C	XP_011510382.1:n.252+3A>C
XM_011512080.2:c.252+3A>C	XP_011510382.1:n.252+3A>C
XM_017005165.1:c.252+3A>C	XP_016860654.1:n.252+3A>C