Canonical Allele Identifier: CA429985185
Gene: ABCB11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.169801130A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944620A>T , CM000664.2:g.168944620A>T GRCh38
NC_000002.11:g.169801130A>T , CM000664.1:g.169801130A>T GRCh37
NC_000002.10:g.169509376A>T NCBI36
NG_007374.1:g.91704T>A
NG_007374.2:g.91777T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.912T>A ENSP00000497165.1:p.Ala304=
ENST00000650372.1:c.2595T>A MANE Select ENSP00000497931.1:p.Ala865=
ENST00000263817.6:c.2595T>A ENSP00000263817.6:p.Ala865=
ENST00000439188.1:c.1284T>A ENSP00000416058.1:n.1284T>A
NM_003742.2:c.2595T>A NP_003733.2:p.Ala865=
XM_006712817.2:c.2637T>A XP_006712880.1:p.Ala879=
XM_011512077.1:c.2697T>A XP_011510379.1:p.Ala899=
XM_011512078.1:c.2697T>A XP_011510380.1:p.Ala899=
XM_011512079.1:c.2697T>A XP_011510381.1:p.Ala899=
XM_011512080.1:c.2697T>A XP_011510382.1:p.Ala899=
XM_011512081.1:c.921T>A XP_011510383.1:p.Ala307=
NM_003742.4:c.2595T>A MANE Select NP_003733.2:p.Ala865=
XM_006712817.3:c.2637T>A XP_006712880.1:p.Ala879=
XM_011512077.2:c.2697T>A XP_011510379.1:p.Ala899=
XM_011512078.2:c.2697T>A XP_011510380.1:p.Ala899=
XM_011512080.2:c.2697T>A XP_011510382.1:p.Ala899=
XM_011512081.2:c.921T>A XP_011510383.1:p.Ala307=
XM_017005165.1:c.2697T>A XP_016860654.1:p.Ala899=
XM_017005166.1:c.1926T>A XP_016860655.1:p.Ala642=
XM_017005167.1:c.1380T>A XP_016860656.1:p.Ala460=