Canonical Allele Identifier: CA1951153
Community Standard Title: NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168935333C>T , CM000664.2:g.168935333C>T GRCh38
NC_000002.11:g.169791843C>T , CM000664.1:g.169791843C>T GRCh37
NC_000002.10:g.169500089C>T NCBI36
NG_007374.1:g.100991G>A
NG_007374.2:g.101064G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.2907G>A MANE Select NP_003733.2:p.Lys969=
ENST00000650372.1:c.2907G>A MANE Select ENSP00000497931.1:p.Lys969=
NM_003742.2:c.2907G>A NP_003733.2:p.Lys969=
ENST00000263817.6:c.2907G>A ENSP00000263817.6:p.Lys969=
ENST00000439188.1:c.1596G>A ENSP00000416058.1:n.1596G>A
ENST00000647920.1:c.74G>A
ENST00000649448.1:c.1224G>A ENSP00000497165.1:p.Lys408=
XM_006712817.2:c.2949G>A XP_006712880.1:p.Lys983=
XM_006712817.3:c.2949G>A XP_006712880.1:p.Lys983=
XM_011512077.1:c.3009G>A XP_011510379.1:p.Lys1003=
XM_011512077.2:c.3009G>A XP_011510379.1:p.Lys1003=
XM_011512078.1:c.3009G>A XP_011510380.1:p.Lys1003=
XM_011512078.2:c.3009G>A XP_011510380.1:p.Lys1003=
XM_011512079.1:c.3009G>A XP_011510381.1:p.Lys1003=
XM_011512081.1:c.1233G>A XP_011510383.1:p.Lys411=
XM_011512081.2:c.1233G>A XP_011510383.1:p.Lys411=
XM_017005165.1:c.3009G>A XP_016860654.1:p.Lys1003=
XM_017005166.1:c.2238G>A XP_016860655.1:p.Lys746=
XM_017005167.1:c.1692G>A XP_016860656.1:p.Lys564=