Canonical Allele Identifier: CA349118412

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924794T>A , CM000664.2:g.168924794T>A	GRCh38
NC_000002.11:g.169781304T>A , CM000664.1:g.169781304T>A	GRCh37
NC_000002.10:g.169489550T>A	NCBI36
NG_007374.1:g.111530A>T
NG_007374.2:g.111603A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3628A>T MANE Select	NP_003733.2:p.Thr1210Ser
ENST00000650372.1:c.3628A>T MANE Select	ENSP00000497931.1:p.Thr1210Ser
NM_003742.2:c.3628A>T	NP_003733.2:p.Thr1210Ser
ENST00000263817.6:c.3628A>T	ENSP00000263817.6:p.Thr1210Ser
ENST00000439188.1:c.2245A>T	ENSP00000416058.1:n.2245A>T
ENST00000648875.1:c.89A>T
ENST00000649448.1:c.2005A>T	ENSP00000497165.1:p.Thr669Ser
XM_006712817.2:c.3670A>T	XP_006712880.1:p.Thr1224Ser
XM_006712817.3:c.3670A>T	XP_006712880.1:p.Thr1224Ser
XM_011512077.1:c.3730A>T	XP_011510379.1:p.Thr1244Ser
XM_011512077.2:c.3730A>T	XP_011510379.1:p.Thr1244Ser
XM_011512078.1:c.3730A>T	XP_011510380.1:p.Thr1244Ser
XM_011512078.2:c.3730A>T	XP_011510380.1:p.Thr1244Ser
XM_011512079.1:c.3730A>T	XP_011510381.1:p.Thr1244Ser
XM_011512081.1:c.1954A>T	XP_011510383.1:p.Thr652Ser
XM_011512081.2:c.1954A>T	XP_011510383.1:p.Thr652Ser
XM_017005165.1:c.3730A>T	XP_016860654.1:p.Thr1244Ser
XM_017005166.1:c.2959A>T	XP_016860655.1:p.Thr987Ser
XM_017005167.1:c.2413A>T	XP_016860656.1:p.Thr805Ser