Canonical Allele Identifier: CA349132619
Gene: ABCB11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168996660G>C , CM000664.2:g.168996660G>C GRCh38
NC_000002.11:g.169853170G>C , CM000664.1:g.169853170G>C GRCh37
NC_000002.10:g.169561416G>C NCBI36
NG_007374.1:g.39664C>G
NG_007374.2:g.39737C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650372.1:c.452C>G MANE Select ENSP00000497931.1:p.Ala151Gly
ENST00000263817.6:c.452C>G ENSP00000263817.6:p.Ala151Gly
NM_003742.2:c.452C>G NP_003733.2:p.Ala151Gly
XM_006712817.2:c.494C>G XP_006712880.1:p.Ala165Gly
XM_011512077.1:c.554C>G XP_011510379.1:p.Ala185Gly
XM_011512078.1:c.554C>G XP_011510380.1:p.Ala185Gly
XM_011512079.1:c.554C>G XP_011510381.1:p.Ala185Gly
XM_011512080.1:c.554C>G XP_011510382.1:p.Ala185Gly
NM_003742.4:c.452C>G MANE Select NP_003733.2:p.Ala151Gly
XM_006712817.3:c.494C>G XP_006712880.1:p.Ala165Gly
XM_011512077.2:c.554C>G XP_011510379.1:p.Ala185Gly
XM_011512078.2:c.554C>G XP_011510380.1:p.Ala185Gly
XM_011512080.2:c.554C>G XP_011510382.1:p.Ala185Gly
XM_017005165.1:c.554C>G XP_016860654.1:p.Ala185Gly