Canonical Allele Identifier: CA1306208169
Community Standard Title: NM_003742.4(ABCB11):c.3084A= (p.Ala1028=)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168932506T= , CM000664.2:g.168932506T= GRCh38
NC_000002.11:g.169789016T= , CM000664.1:g.169789016T= GRCh37
NC_000002.10:g.169497262T= NCBI36
NG_007374.1:g.103818A=
NG_007374.2:g.103891A=

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.3084A= MANE Select NP_003733.2:p.Ala1028=
ENST00000650372.1:c.3084A= MANE Select ENSP00000497931.1:p.Ala1028=
NM_003742.2:c.3084A= NP_003733.2:p.Ala1028=
ENST00000263817.6:c.3084A= ENSP00000263817.6:p.Ala1028=
ENST00000439188.1:c.1773A= ENSP00000416058.1:n.1773A=
ENST00000647920.1:c.411A=
ENST00000649448.1:c.1401A= ENSP00000497165.1:p.Ala467=
XM_006712817.2:c.3126A= XP_006712880.1:p.Ala1042=
XM_006712817.3:c.3126A= XP_006712880.1:p.Ala1042=
XM_011512077.1:c.3186A= XP_011510379.1:p.Ala1062=
XM_011512077.2:c.3186A= XP_011510379.1:p.Ala1062=
XM_011512078.1:c.3186A= XP_011510380.1:p.Ala1062=
XM_011512078.2:c.3186A= XP_011510380.1:p.Ala1062=
XM_011512079.1:c.3186A= XP_011510381.1:p.Ala1062=
XM_011512081.1:c.1410A= XP_011510383.1:p.Ala470=
XM_011512081.2:c.1410A= XP_011510383.1:p.Ala470=
XM_017005165.1:c.3186A= XP_016860654.1:p.Ala1062=
XM_017005166.1:c.2415A= XP_016860655.1:p.Ala805=
XM_017005167.1:c.1869A= XP_016860656.1:p.Ala623=