Canonical Allele Identifier: CA1306205822
Community Standard Title: NM_003742.4(ABCB11):c.3914C= (p.Ala1305=)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168923674G= , CM000664.2:g.168923674G= GRCh38
NC_000002.11:g.169780184G= , CM000664.1:g.169780184G= GRCh37
NC_000002.10:g.169488430G= NCBI36
NG_007374.1:g.112650C=
NG_007374.2:g.112723C=

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.3914C= MANE Select NP_003733.2:p.Ala1305=
ENST00000650372.1:c.3914C= MANE Select ENSP00000497931.1:p.Ala1305=
NM_003742.2:c.3914C= NP_003733.2:p.Ala1305=
ENST00000263817.6:c.3914C= ENSP00000263817.6:p.Ala1305=
ENST00000439188.1:c.2531C= ENSP00000416058.1:n.2531C=
ENST00000648875.1:c.226+983C=
ENST00000649448.1:c.2291C= ENSP00000497165.1:p.Ala764=
XM_006712817.2:c.3956C= XP_006712880.1:p.Ala1319=
XM_006712817.3:c.3956C= XP_006712880.1:p.Ala1319=
XM_011512077.1:c.4016C= XP_011510379.1:p.Ala1339=
XM_011512077.2:c.4016C= XP_011510379.1:p.Ala1339=
XM_011512078.1:c.4016C= XP_011510380.1:p.Ala1339=
XM_011512078.2:c.4016C= XP_011510380.1:p.Ala1339=
XM_011512079.1:c.4016C= XP_011510381.1:p.Ala1339=
XM_011512081.1:c.2240C= XP_011510383.1:p.Ala747=
XM_011512081.2:c.2240C= XP_011510383.1:p.Ala747=
XM_017005165.1:c.3867+983C= XP_016860654.1:n.3867+983C=
XM_017005166.1:c.3245C= XP_016860655.1:p.Ala1082=
XM_017005167.1:c.2699C= XP_016860656.1:p.Ala900=