Canonical Allele Identifier: CA349106810
Community Standard Title: NM_003742.4(ABCB11):c.2272G>A (p.Gly758Arg)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168958035C>T , CM000664.2:g.168958035C>T GRCh38
NC_000002.11:g.169814545C>T , CM000664.1:g.169814545C>T GRCh37
NC_000002.10:g.169522791C>T NCBI36
NG_007374.1:g.78289G>A
NG_007374.2:g.78362G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.2272G>A MANE Select NP_003733.2:p.Gly758Arg
ENST00000650372.1:c.2272G>A MANE Select ENSP00000497931.1:p.Gly758Arg
NM_003742.2:c.2272G>A NP_003733.2:p.Gly758Arg
ENST00000263817.6:c.2272G>A ENSP00000263817.6:p.Gly758Arg
ENST00000439188.1:c.961G>A ENSP00000416058.1:n.961G>A
ENST00000649448.1:c.589G>A ENSP00000497165.1:p.Gly197Arg
XM_006712817.2:c.2314G>A XP_006712880.1:p.Gly772Arg
XM_006712817.3:c.2314G>A XP_006712880.1:p.Gly772Arg
XM_011512077.1:c.2374G>A XP_011510379.1:p.Gly792Arg
XM_011512077.2:c.2374G>A XP_011510379.1:p.Gly792Arg
XM_011512078.1:c.2374G>A XP_011510380.1:p.Gly792Arg
XM_011512078.2:c.2374G>A XP_011510380.1:p.Gly792Arg
XM_011512079.1:c.2374G>A XP_011510381.1:p.Gly792Arg
XM_011512080.1:c.2374G>A XP_011510382.1:p.Gly792Arg
XM_011512080.2:c.2374G>A XP_011510382.1:p.Gly792Arg
XM_011512081.1:c.598G>A XP_011510383.1:p.Gly200Arg
XM_011512081.2:c.598G>A XP_011510383.1:p.Gly200Arg
XM_017005165.1:c.2374G>A XP_016860654.1:p.Gly792Arg
XM_017005166.1:c.1603G>A XP_016860655.1:p.Gly535Arg
XM_017005167.1:c.1057G>A XP_016860656.1:p.Gly353Arg