Canonical Allele Identifier: CA349124098

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168986164G>C , CM000664.2:g.168986164G>C	GRCh38
NC_000002.11:g.169842674G>C , CM000664.1:g.169842674G>C	GRCh37
NC_000002.10:g.169550920G>C	NCBI36
NG_007374.1:g.50160C>G
NG_007374.2:g.50233C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1029C>G MANE Select	NP_003733.2:p.Tyr343Ter
ENST00000650372.1:c.1029C>G MANE Select	ENSP00000497931.1:p.Tyr343Ter
NM_003742.2:c.1029C>G	NP_003733.2:p.Tyr343Ter
ENST00000263817.6:c.1029C>G	ENSP00000263817.6:p.Tyr343Ter
XM_006712817.2:c.1071C>G	XP_006712880.1:p.Tyr357Ter
XM_006712817.3:c.1071C>G	XP_006712880.1:p.Tyr357Ter
XM_011512077.1:c.1131C>G	XP_011510379.1:p.Tyr377Ter
XM_011512077.2:c.1131C>G	XP_011510379.1:p.Tyr377Ter
XM_011512078.1:c.1131C>G	XP_011510380.1:p.Tyr377Ter
XM_011512078.2:c.1131C>G	XP_011510380.1:p.Tyr377Ter
XM_011512079.1:c.1131C>G	XP_011510381.1:p.Tyr377Ter
XM_011512080.1:c.1131C>G	XP_011510382.1:p.Tyr377Ter
XM_011512080.2:c.1131C>G	XP_011510382.1:p.Tyr377Ter
XM_017005165.1:c.1131C>G	XP_016860654.1:p.Tyr377Ter
XM_017005166.1:c.360C>G	XP_016860655.1:p.Tyr120Ter