Canonical Allele Identifier: CA1951433

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168969454T>C , CM000664.2:g.168969454T>C	GRCh38
NC_000002.11:g.169825964T>C , CM000664.1:g.169825964T>C	GRCh37
NC_000002.10:g.169534210T>C	NCBI36
NG_007374.1:g.66870A>G
NG_007374.2:g.66943A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1907A>G MANE Select	NP_003733.2:p.Glu636Gly
ENST00000650372.1:c.1907A>G MANE Select	ENSP00000497931.1:p.Glu636Gly
NM_003742.2:c.1907A>G	NP_003733.2:p.Glu636Gly
ENST00000263817.6:c.1907A>G	ENSP00000263817.6:p.Glu636Gly
ENST00000439188.1:c.596A>G	ENSP00000416058.1:n.596A>G
ENST00000649448.1:c.224A>G	ENSP00000497165.1:p.Glu75Gly
XM_006712817.2:c.1949A>G	XP_006712880.1:p.Glu650Gly
XM_006712817.3:c.1949A>G	XP_006712880.1:p.Glu650Gly
XM_011512077.1:c.2009A>G	XP_011510379.1:p.Glu670Gly
XM_011512077.2:c.2009A>G	XP_011510379.1:p.Glu670Gly
XM_011512078.1:c.2009A>G	XP_011510380.1:p.Glu670Gly
XM_011512078.2:c.2009A>G	XP_011510380.1:p.Glu670Gly
XM_011512079.1:c.2009A>G	XP_011510381.1:p.Glu670Gly
XM_011512080.1:c.2009A>G	XP_011510382.1:p.Glu670Gly
XM_011512080.2:c.2009A>G	XP_011510382.1:p.Glu670Gly
XM_011512081.1:c.233A>G	XP_011510383.1:p.Glu78Gly
XM_011512081.2:c.233A>G	XP_011510383.1:p.Glu78Gly
XM_017005165.1:c.2009A>G	XP_016860654.1:p.Glu670Gly
XM_017005166.1:c.1238A>G	XP_016860655.1:p.Glu413Gly
XM_017005167.1:c.692A>G	XP_016860656.1:p.Glu231Gly