Canonical Allele Identifier: CA1951540
Community Standard Title: NM_003742.4(ABCB11):c.1568C>G (p.Ala523Gly)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168971917G>C , CM000664.2:g.168971917G>C GRCh38
NC_000002.11:g.169828427G>C , CM000664.1:g.169828427G>C GRCh37
NC_000002.10:g.169536673G>C NCBI36
NG_007374.1:g.64407C>G
NG_007374.2:g.64480C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.1568C>G MANE Select NP_003733.2:p.Ala523Gly
ENST00000650372.1:c.1568C>G MANE Select ENSP00000497931.1:p.Ala523Gly
NM_003742.2:c.1568C>G NP_003733.2:p.Ala523Gly
ENST00000263817.6:c.1568C>G ENSP00000263817.6:p.Ala523Gly
ENST00000439188.1:c.116C>G ENSP00000416058.1:p.Ala39Gly
XM_006712817.2:c.1610C>G XP_006712880.1:p.Ala537Gly
XM_006712817.3:c.1610C>G XP_006712880.1:p.Ala537Gly
XM_011512077.1:c.1670C>G XP_011510379.1:p.Ala557Gly
XM_011512077.2:c.1670C>G XP_011510379.1:p.Ala557Gly
XM_011512078.1:c.1670C>G XP_011510380.1:p.Ala557Gly
XM_011512078.2:c.1670C>G XP_011510380.1:p.Ala557Gly
XM_011512079.1:c.1670C>G XP_011510381.1:p.Ala557Gly
XM_011512080.1:c.1670C>G XP_011510382.1:p.Ala557Gly
XM_011512080.2:c.1670C>G XP_011510382.1:p.Ala557Gly
XM_011512081.1:c.-248C>G XP_011510383.1:n.-248C>G
XM_011512081.2:c.-248C>G XP_011510383.1:n.-248C>G
XM_017005165.1:c.1670C>G XP_016860654.1:p.Ala557Gly
XM_017005166.1:c.899C>G XP_016860655.1:p.Ala300Gly
XM_017005167.1:c.353C>G XP_016860656.1:p.Ala118Gly