Canonical Allele Identifier: CA349123408

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168935229C>T , CM000664.2:g.168935229C>T	GRCh38
NC_000002.11:g.169791739C>T , CM000664.1:g.169791739C>T	GRCh37
NC_000002.10:g.169499985C>T	NCBI36
NG_007374.1:g.101095G>A
NG_007374.2:g.101168G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3011G>A MANE Select	NP_003733.2:p.Gly1004Asp
ENST00000650372.1:c.3011G>A MANE Select	ENSP00000497931.1:p.Gly1004Asp
NM_003742.2:c.3011G>A	NP_003733.2:p.Gly1004Asp
ENST00000263817.6:c.3011G>A	ENSP00000263817.6:p.Gly1004Asp
ENST00000439188.1:c.1700G>A	ENSP00000416058.1:n.1700G>A
ENST00000647920.1:c.178G>A
ENST00000649448.1:c.1328G>A	ENSP00000497165.1:p.Gly443Asp
XM_006712817.2:c.3053G>A	XP_006712880.1:p.Gly1018Asp
XM_006712817.3:c.3053G>A	XP_006712880.1:p.Gly1018Asp
XM_011512077.1:c.3113G>A	XP_011510379.1:p.Gly1038Asp
XM_011512077.2:c.3113G>A	XP_011510379.1:p.Gly1038Asp
XM_011512078.1:c.3113G>A	XP_011510380.1:p.Gly1038Asp
XM_011512078.2:c.3113G>A	XP_011510380.1:p.Gly1038Asp
XM_011512079.1:c.3113G>A	XP_011510381.1:p.Gly1038Asp
XM_011512081.1:c.1337G>A	XP_011510383.1:p.Gly446Asp
XM_011512081.2:c.1337G>A	XP_011510383.1:p.Gly446Asp
XM_017005165.1:c.3113G>A	XP_016860654.1:p.Gly1038Asp
XM_017005166.1:c.2342G>A	XP_016860655.1:p.Gly781Asp
XM_017005167.1:c.1796G>A	XP_016860656.1:p.Gly599Asp