Canonical Allele Identifier: CA349132685

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168996677A>C , CM000664.2:g.168996677A>C	GRCh38
NC_000002.11:g.169853187A>C , CM000664.1:g.169853187A>C	GRCh37
NC_000002.10:g.169561433A>C	NCBI36
NG_007374.1:g.39647T>G
NG_007374.2:g.39720T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.435T>G MANE Select	NP_003733.2:p.Tyr145Ter
ENST00000650372.1:c.435T>G MANE Select	ENSP00000497931.1:p.Tyr145Ter
NM_003742.2:c.435T>G	NP_003733.2:p.Tyr145Ter
ENST00000263817.6:c.435T>G	ENSP00000263817.6:p.Tyr145Ter
XM_006712817.2:c.477T>G	XP_006712880.1:p.Tyr159Ter
XM_006712817.3:c.477T>G	XP_006712880.1:p.Tyr159Ter
XM_011512077.1:c.537T>G	XP_011510379.1:p.Tyr179Ter
XM_011512077.2:c.537T>G	XP_011510379.1:p.Tyr179Ter
XM_011512078.1:c.537T>G	XP_011510380.1:p.Tyr179Ter
XM_011512078.2:c.537T>G	XP_011510380.1:p.Tyr179Ter
XM_011512079.1:c.537T>G	XP_011510381.1:p.Tyr179Ter
XM_011512080.1:c.537T>G	XP_011510382.1:p.Tyr179Ter
XM_011512080.2:c.537T>G	XP_011510382.1:p.Tyr179Ter
XM_017005165.1:c.537T>G	XP_016860654.1:p.Tyr179Ter