Canonical Allele Identifier: CA349107073

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169016801T>C , CM000664.2:g.169016801T>C	GRCh38
NC_000002.11:g.169873311T>C , CM000664.1:g.169873311T>C	GRCh37
NC_000002.10:g.169581557T>C	NCBI36
NG_007374.1:g.19523A>G
NG_007374.2:g.19596A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.77-2A>G MANE Select	NP_003733.2:n.77-2A>G
ENST00000650372.1:c.77-2A>G MANE Select	ENSP00000497931.1:n.77-2A>G
NM_003742.2:c.77-2A>G	NP_003733.2:n.77-2A>G
ENST00000263817.6:c.77-2A>G	ENSP00000263817.6:n.77-2A>G
XM_006712817.2:c.119-2A>G	XP_006712880.1:n.119-2A>G
XM_006712817.3:c.119-2A>G	XP_006712880.1:n.119-2A>G
XM_011512077.1:c.179-2A>G	XP_011510379.1:n.179-2A>G
XM_011512077.2:c.179-2A>G	XP_011510379.1:n.179-2A>G
XM_011512078.1:c.179-2A>G	XP_011510380.1:n.179-2A>G
XM_011512078.2:c.179-2A>G	XP_011510380.1:n.179-2A>G
XM_011512079.1:c.179-2A>G	XP_011510381.1:n.179-2A>G
XM_011512080.1:c.179-2A>G	XP_011510382.1:n.179-2A>G
XM_011512080.2:c.179-2A>G	XP_011510382.1:n.179-2A>G
XM_017005165.1:c.179-2A>G	XP_016860654.1:n.179-2A>G