Canonical Allele Identifier: CA1951893
Community Standard Title: NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168996704G>A , CM000664.2:g.168996704G>A GRCh38
NC_000002.11:g.169853214G>A , CM000664.1:g.169853214G>A GRCh37
NC_000002.10:g.169561460G>A NCBI36
NG_007374.1:g.39620C>T
NG_007374.2:g.39693C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.408C>T MANE Select NP_003733.2:p.Ser136=
ENST00000650372.1:c.408C>T MANE Select ENSP00000497931.1:p.Ser136=
NM_003742.2:c.408C>T NP_003733.2:p.Ser136=
ENST00000263817.6:c.408C>T ENSP00000263817.6:p.Ser136=
XM_006712817.2:c.450C>T XP_006712880.1:p.Ser150=
XM_006712817.3:c.450C>T XP_006712880.1:p.Ser150=
XM_011512077.1:c.510C>T XP_011510379.1:p.Ser170=
XM_011512077.2:c.510C>T XP_011510379.1:p.Ser170=
XM_011512078.1:c.510C>T XP_011510380.1:p.Ser170=
XM_011512078.2:c.510C>T XP_011510380.1:p.Ser170=
XM_011512079.1:c.510C>T XP_011510381.1:p.Ser170=
XM_011512080.1:c.510C>T XP_011510382.1:p.Ser170=
XM_011512080.2:c.510C>T XP_011510382.1:p.Ser170=
XM_017005165.1:c.510C>T XP_016860654.1:p.Ser170=