Canonical Allele Identifier: CA349107341
Community Standard Title: NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169018061G>C , CM000664.2:g.169018061G>C GRCh38
NC_000002.11:g.169874571G>C , CM000664.1:g.169874571G>C GRCh37
NC_000002.10:g.169582817G>C NCBI36
NG_007374.1:g.18263C>G
NG_007374.2:g.18336C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.65C>G MANE Select NP_003733.2:p.Ser22Ter
ENST00000650372.1:c.65C>G MANE Select ENSP00000497931.1:p.Ser22Ter
NM_003742.2:c.65C>G NP_003733.2:p.Ser22Ter
ENST00000263817.6:c.65C>G ENSP00000263817.6:p.Ser22Ter
XM_006712817.2:c.65C>G XP_006712880.1:p.Ser22Ter
XM_006712817.3:c.65C>G XP_006712880.1:p.Ser22Ter
XM_011512077.1:c.65C>G XP_011510379.1:p.Ser22Ter
XM_011512077.2:c.65C>G XP_011510379.1:p.Ser22Ter
XM_011512078.1:c.65C>G XP_011510380.1:p.Ser22Ter
XM_011512078.2:c.65C>G XP_011510380.1:p.Ser22Ter
XM_011512079.1:c.65C>G XP_011510381.1:p.Ser22Ter
XM_011512080.1:c.65C>G XP_011510382.1:p.Ser22Ter
XM_011512080.2:c.65C>G XP_011510382.1:p.Ser22Ter
XM_017005165.1:c.65C>G XP_016860654.1:p.Ser22Ter