Canonical Allele Identifier: CA349127660

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168993715C>T , CM000664.2:g.168993715C>T	GRCh38
NC_000002.11:g.169850225C>T , CM000664.1:g.169850225C>T	GRCh37
NC_000002.10:g.169558471C>T	NCBI36
NG_007374.1:g.42609G>A
NG_007374.2:g.42682G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.779G>A MANE Select	NP_003733.2:p.Gly260Asp
ENST00000650372.1:c.779G>A MANE Select	ENSP00000497931.1:p.Gly260Asp
NM_003742.2:c.779G>A	NP_003733.2:p.Gly260Asp
ENST00000263817.6:c.779G>A	ENSP00000263817.6:p.Gly260Asp
XM_006712817.2:c.821G>A	XP_006712880.1:p.Gly274Asp
XM_006712817.3:c.821G>A	XP_006712880.1:p.Gly274Asp
XM_011512077.1:c.881G>A	XP_011510379.1:p.Gly294Asp
XM_011512077.2:c.881G>A	XP_011510379.1:p.Gly294Asp
XM_011512078.1:c.881G>A	XP_011510380.1:p.Gly294Asp
XM_011512078.2:c.881G>A	XP_011510380.1:p.Gly294Asp
XM_011512079.1:c.881G>A	XP_011510381.1:p.Gly294Asp
XM_011512080.1:c.881G>A	XP_011510382.1:p.Gly294Asp
XM_011512080.2:c.881G>A	XP_011510382.1:p.Gly294Asp
XM_017005165.1:c.881G>A	XP_016860654.1:p.Gly294Asp
XM_017005166.1:c.110G>A	XP_016860655.1:p.Gly37Asp