Canonical Allele Identifier: CA1951562

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168972040T>C , CM000664.2:g.168972040T>C	GRCh38
NC_000002.11:g.169828550T>C , CM000664.1:g.169828550T>C	GRCh37
NC_000002.10:g.169536796T>C	NCBI36
NG_007374.1:g.64284A>G
NG_007374.2:g.64357A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1445A>G MANE Select	NP_003733.2:p.Asp482Gly
ENST00000650372.1:c.1445A>G MANE Select	ENSP00000497931.1:p.Asp482Gly
NM_003742.2:c.1445A>G	NP_003733.2:p.Asp482Gly
ENST00000263817.6:c.1445A>G	ENSP00000263817.6:p.Asp482Gly
XM_006712817.2:c.1487A>G	XP_006712880.1:p.Asp496Gly
XM_006712817.3:c.1487A>G	XP_006712880.1:p.Asp496Gly
XM_011512077.1:c.1547A>G	XP_011510379.1:p.Asp516Gly
XM_011512077.2:c.1547A>G	XP_011510379.1:p.Asp516Gly
XM_011512078.1:c.1547A>G	XP_011510380.1:p.Asp516Gly
XM_011512078.2:c.1547A>G	XP_011510380.1:p.Asp516Gly
XM_011512079.1:c.1547A>G	XP_011510381.1:p.Asp516Gly
XM_011512080.1:c.1547A>G	XP_011510382.1:p.Asp516Gly
XM_011512080.2:c.1547A>G	XP_011510382.1:p.Asp516Gly
XM_017005165.1:c.1547A>G	XP_016860654.1:p.Asp516Gly
XM_017005166.1:c.776A>G	XP_016860655.1:p.Asp259Gly
XM_017005167.1:c.230A>G	XP_016860656.1:p.Asp77Gly