Canonical Allele Identifier: CA349120050

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927363C>T , CM000664.2:g.168927363C>T	GRCh38
NC_000002.11:g.169783873C>T , CM000664.1:g.169783873C>T	GRCh37
NC_000002.10:g.169492119C>T	NCBI36
NG_007374.1:g.108961G>A
NG_007374.2:g.109034G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3412-1G>A MANE Select	NP_003733.2:n.3412-1G>A
ENST00000650372.1:c.3412-1G>A MANE Select	ENSP00000497931.1:n.3412-1G>A
NM_003742.2:c.3412-1G>A	NP_003733.2:n.3412-1G>A
ENST00000263817.6:c.3412-1G>A	ENSP00000263817.6:n.3412-1G>A
ENST00000439188.1:c.2101-73G>A	ENSP00000416058.1:n.2101-73G>A
ENST00000649448.1:c.1789-1G>A	ENSP00000497165.1:n.1789-1G>A
XM_006712817.2:c.3454-1G>A	XP_006712880.1:n.3454-1G>A
XM_006712817.3:c.3454-1G>A	XP_006712880.1:n.3454-1G>A
XM_011512077.1:c.3514-1G>A	XP_011510379.1:n.3514-1G>A
XM_011512077.2:c.3514-1G>A	XP_011510379.1:n.3514-1G>A
XM_011512078.1:c.3514-1G>A	XP_011510380.1:n.3514-1G>A
XM_011512078.2:c.3514-1G>A	XP_011510380.1:n.3514-1G>A
XM_011512079.1:c.3514-1G>A	XP_011510381.1:n.3514-1G>A
XM_011512081.1:c.1738-1G>A	XP_011510383.1:n.1738-1G>A
XM_011512081.2:c.1738-1G>A	XP_011510383.1:n.1738-1G>A
XM_017005165.1:c.3514-1G>A	XP_016860654.1:n.3514-1G>A
XM_017005166.1:c.2743-1G>A	XP_016860655.1:n.2743-1G>A
XM_017005167.1:c.2197-1G>A	XP_016860656.1:n.2197-1G>A