Canonical Allele Identifier: CA429917078
Gene: ABCB11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.169847334A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168990824A>T , CM000664.2:g.168990824A>T GRCh38
NC_000002.11:g.169847334A>T , CM000664.1:g.169847334A>T GRCh37
NC_000002.10:g.169555580A>T NCBI36
NG_007374.1:g.45500T>A
NG_007374.2:g.45573T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650372.1:c.885T>A MANE Select ENSP00000497931.1:p.Gly295=
ENST00000263817.6:c.885T>A ENSP00000263817.6:p.Gly295=
NM_003742.2:c.885T>A NP_003733.2:p.Gly295=
XM_006712817.2:c.927T>A XP_006712880.1:p.Gly309=
XM_011512077.1:c.987T>A XP_011510379.1:p.Gly329=
XM_011512078.1:c.987T>A XP_011510380.1:p.Gly329=
XM_011512079.1:c.987T>A XP_011510381.1:p.Gly329=
XM_011512080.1:c.987T>A XP_011510382.1:p.Gly329=
NM_003742.4:c.885T>A MANE Select NP_003733.2:p.Gly295=
XM_006712817.3:c.927T>A XP_006712880.1:p.Gly309=
XM_011512077.2:c.987T>A XP_011510379.1:p.Gly329=
XM_011512078.2:c.987T>A XP_011510380.1:p.Gly329=
XM_011512080.2:c.987T>A XP_011510382.1:p.Gly329=
XM_017005165.1:c.987T>A XP_016860654.1:p.Gly329=
XM_017005166.1:c.216T>A XP_016860655.1:p.Gly72=