Canonical Allele Identifier: CA59868562

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924793G>C , CM000664.2:g.168924793G>C	GRCh38
NC_000002.11:g.169781303G>C , CM000664.1:g.169781303G>C	GRCh37
NC_000002.10:g.169489549G>C	NCBI36
NG_007374.1:g.111531C>G
NG_007374.2:g.111604C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3629C>G MANE Select	NP_003733.2:p.Thr1210Ser
ENST00000650372.1:c.3629C>G MANE Select	ENSP00000497931.1:p.Thr1210Ser
NM_003742.2:c.3629C>G	NP_003733.2:p.Thr1210Ser
ENST00000263817.6:c.3629C>G	ENSP00000263817.6:p.Thr1210Ser
ENST00000439188.1:c.2246C>G	ENSP00000416058.1:n.2246C>G
ENST00000648875.1:c.90C>G
ENST00000649448.1:c.2006C>G	ENSP00000497165.1:p.Thr669Ser
XM_006712817.2:c.3671C>G	XP_006712880.1:p.Thr1224Ser
XM_006712817.3:c.3671C>G	XP_006712880.1:p.Thr1224Ser
XM_011512077.1:c.3731C>G	XP_011510379.1:p.Thr1244Ser
XM_011512077.2:c.3731C>G	XP_011510379.1:p.Thr1244Ser
XM_011512078.1:c.3731C>G	XP_011510380.1:p.Thr1244Ser
XM_011512078.2:c.3731C>G	XP_011510380.1:p.Thr1244Ser
XM_011512079.1:c.3731C>G	XP_011510381.1:p.Thr1244Ser
XM_011512081.1:c.1955C>G	XP_011510383.1:p.Thr652Ser
XM_011512081.2:c.1955C>G	XP_011510383.1:p.Thr652Ser
XM_017005165.1:c.3731C>G	XP_016860654.1:p.Thr1244Ser
XM_017005166.1:c.2960C>G	XP_016860655.1:p.Thr987Ser
XM_017005167.1:c.2414C>G	XP_016860656.1:p.Thr805Ser