Canonical Allele Identifier: CA2577147892
Gene: ABCB11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944530G>T , CM000664.2:g.168944530G>T GRCh38
NC_000002.11:g.169801040G>T , CM000664.1:g.169801040G>T GRCh37
NC_000002.10:g.169509286G>T NCBI36
NG_007374.1:g.91794C>A
NG_007374.2:g.91867C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000649448.1:c.927+75C>A ENSP00000497165.1:n.927+75C>A
ENST00000650372.1:c.2610+75C>A MANE Select ENSP00000497931.1:n.2610+75C>A
ENST00000263817.6:c.2610+75C>A ENSP00000263817.6:n.2610+75C>A
ENST00000439188.1:c.1299+75C>A ENSP00000416058.1:n.1299+75C>A
NM_003742.2:c.2610+75C>A NP_003733.2:n.2610+75C>A
XM_006712817.2:c.2652+75C>A XP_006712880.1:n.2652+75C>A
XM_011512077.1:c.2712+75C>A XP_011510379.1:n.2712+75C>A
XM_011512078.1:c.2712+75C>A XP_011510380.1:n.2712+75C>A
XM_011512079.1:c.2712+75C>A XP_011510381.1:n.2712+75C>A
XM_011512080.1:c.2712+75C>A XP_011510382.1:n.2712+75C>A
XM_011512081.1:c.936+75C>A XP_011510383.1:n.936+75C>A
NM_003742.4:c.2610+75C>A MANE Select NP_003733.2:n.2610+75C>A
XM_006712817.3:c.2652+75C>A XP_006712880.1:n.2652+75C>A
XM_011512077.2:c.2712+75C>A XP_011510379.1:n.2712+75C>A
XM_011512078.2:c.2712+75C>A XP_011510380.1:n.2712+75C>A
XM_011512080.2:c.2712+75C>A XP_011510382.1:n.2712+75C>A
XM_011512081.2:c.936+75C>A XP_011510383.1:n.936+75C>A
XM_017005165.1:c.2712+75C>A XP_016860654.1:n.2712+75C>A
XM_017005166.1:c.1941+75C>A XP_016860655.1:n.1941+75C>A
XM_017005167.1:c.1395+75C>A XP_016860656.1:n.1395+75C>A