Canonical Allele Identifier: CA1951949
Community Standard Title: NM_003742.4(ABCB11):c.156G>A (p.Arg52=)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169013505C>T , CM000664.2:g.169013505C>T GRCh38
NC_000002.11:g.169870015C>T , CM000664.1:g.169870015C>T GRCh37
NC_000002.10:g.169578261C>T NCBI36
NG_007374.1:g.22819G>A
NG_007374.2:g.22892G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.156G>A MANE Select NP_003733.2:p.Arg52=
ENST00000650372.1:c.156G>A MANE Select ENSP00000497931.1:p.Arg52=
NM_003742.2:c.156G>A NP_003733.2:p.Arg52=
ENST00000263817.6:c.156G>A ENSP00000263817.6:p.Arg52=
XM_006712817.2:c.198G>A XP_006712880.1:p.Arg66=
XM_006712817.3:c.198G>A XP_006712880.1:p.Arg66=
XM_011512077.1:c.258G>A XP_011510379.1:p.Arg86=
XM_011512077.2:c.258G>A XP_011510379.1:p.Arg86=
XM_011512078.1:c.258G>A XP_011510380.1:p.Arg86=
XM_011512078.2:c.258G>A XP_011510380.1:p.Arg86=
XM_011512079.1:c.258G>A XP_011510381.1:p.Arg86=
XM_011512080.1:c.258G>A XP_011510382.1:p.Arg86=
XM_011512080.2:c.258G>A XP_011510382.1:p.Arg86=
XM_017005165.1:c.258G>A XP_016860654.1:p.Arg86=