Canonical Allele Identifier: CA1951783

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168990858A>G , CM000664.2:g.168990858A>G	GRCh38
NC_000002.11:g.169847368A>G , CM000664.1:g.169847368A>G	GRCh37
NC_000002.10:g.169555614A>G	NCBI36
NG_007374.1:g.45466T>C
NG_007374.2:g.45539T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.851T>C MANE Select	NP_003733.2:p.Val284Ala
ENST00000650372.1:c.851T>C MANE Select	ENSP00000497931.1:p.Val284Ala
NM_003742.2:c.851T>C	NP_003733.2:p.Val284Ala
ENST00000263817.6:c.851T>C	ENSP00000263817.6:p.Val284Ala
XM_006712817.2:c.893T>C	XP_006712880.1:p.Val298Ala
XM_006712817.3:c.893T>C	XP_006712880.1:p.Val298Ala
XM_011512077.1:c.953T>C	XP_011510379.1:p.Val318Ala
XM_011512077.2:c.953T>C	XP_011510379.1:p.Val318Ala
XM_011512078.1:c.953T>C	XP_011510380.1:p.Val318Ala
XM_011512078.2:c.953T>C	XP_011510380.1:p.Val318Ala
XM_011512079.1:c.953T>C	XP_011510381.1:p.Val318Ala
XM_011512080.1:c.953T>C	XP_011510382.1:p.Val318Ala
XM_011512080.2:c.953T>C	XP_011510382.1:p.Val318Ala
XM_017005165.1:c.953T>C	XP_016860654.1:p.Val318Ala
XM_017005166.1:c.182T>C	XP_016860655.1:p.Val61Ala