Canonical Allele Identifier: CA10611690
Community Standard Title: NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168968486T>A , CM000664.2:g.168968486T>A GRCh38
NC_000002.11:g.169824996T>A , CM000664.1:g.169824996T>A GRCh37
NC_000002.10:g.169533242T>A NCBI36
NG_007374.1:g.67838A>T
NG_007374.2:g.67911A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.2016A>T MANE Select NP_003733.2:p.Ala672=
ENST00000650372.1:c.2016A>T MANE Select ENSP00000497931.1:p.Ala672=
NM_003742.2:c.2016A>T NP_003733.2:p.Ala672=
ENST00000263817.6:c.2016A>T ENSP00000263817.6:p.Ala672=
ENST00000439188.1:c.705A>T ENSP00000416058.1:n.705A>T
ENST00000649448.1:c.333A>T ENSP00000497165.1:p.Ala111=
XM_006712817.2:c.2058A>T XP_006712880.1:p.Ala686=
XM_006712817.3:c.2058A>T XP_006712880.1:p.Ala686=
XM_011512077.1:c.2118A>T XP_011510379.1:p.Ala706=
XM_011512077.2:c.2118A>T XP_011510379.1:p.Ala706=
XM_011512078.1:c.2118A>T XP_011510380.1:p.Ala706=
XM_011512078.2:c.2118A>T XP_011510380.1:p.Ala706=
XM_011512079.1:c.2118A>T XP_011510381.1:p.Ala706=
XM_011512080.1:c.2118A>T XP_011510382.1:p.Ala706=
XM_011512080.2:c.2118A>T XP_011510382.1:p.Ala706=
XM_011512081.1:c.342A>T XP_011510383.1:p.Ala114=
XM_011512081.2:c.342A>T XP_011510383.1:p.Ala114=
XM_017005165.1:c.2118A>T XP_016860654.1:p.Ala706=
XM_017005166.1:c.1347A>T XP_016860655.1:p.Ala449=
XM_017005167.1:c.801A>T XP_016860656.1:p.Ala267=