Canonical Allele Identifier: CA537527755
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168984064T>A , CM000664.2:g.168984064T>A GRCh38
NC_000002.11:g.169840574T>A , CM000664.1:g.169840574T>A GRCh37
NC_000002.10:g.169548820T>A NCBI36
NG_007374.1:g.52260A>T
NG_007374.2:g.52333A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650372.1:c.1083+2046A>T MANE Select ENSP00000497931.1:n.1083+2046A>T
ENST00000263817.6:c.1083+2046A>T ENSP00000263817.6:n.1083+2046A>T
NM_003742.2:c.1083+2046A>T NP_003733.2:n.1083+2046A>T
XM_006712817.2:c.1125+2046A>T XP_006712880.1:n.1125+2046A>T
XM_011512077.1:c.1185+2046A>T XP_011510379.1:n.1185+2046A>T
XM_011512078.1:c.1185+2046A>T XP_011510380.1:n.1185+2046A>T
XM_011512079.1:c.1185+2046A>T XP_011510381.1:n.1185+2046A>T
XM_011512080.1:c.1185+2046A>T XP_011510382.1:n.1185+2046A>T
NM_003742.4:c.1083+2046A>T MANE Select NP_003733.2:n.1083+2046A>T
XM_006712817.3:c.1125+2046A>T XP_006712880.1:n.1125+2046A>T
XM_011512077.2:c.1185+2046A>T XP_011510379.1:n.1185+2046A>T
XM_011512078.2:c.1185+2046A>T XP_011510380.1:n.1185+2046A>T
XM_011512080.2:c.1185+2046A>T XP_011510382.1:n.1185+2046A>T
XM_017005165.1:c.1185+2046A>T XP_016860654.1:n.1185+2046A>T
XM_017005166.1:c.414+2046A>T XP_016860655.1:n.414+2046A>T