Canonical Allele Identifier: CA349122576

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932507G>A , CM000664.2:g.168932507G>A	GRCh38
NC_000002.11:g.169789017G>A , CM000664.1:g.169789017G>A	GRCh37
NC_000002.10:g.169497263G>A	NCBI36
NG_007374.1:g.103817C>T
NG_007374.2:g.103890C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3083C>T MANE Select	NP_003733.2:p.Ala1028Val
ENST00000650372.1:c.3083C>T MANE Select	ENSP00000497931.1:p.Ala1028Val
NM_003742.2:c.3083C>T	NP_003733.2:p.Ala1028Val
ENST00000263817.6:c.3083C>T	ENSP00000263817.6:p.Ala1028Val
ENST00000439188.1:c.1772C>T	ENSP00000416058.1:n.1772C>T
ENST00000647920.1:c.410C>T
ENST00000649448.1:c.1400C>T	ENSP00000497165.1:p.Ala467Val
XM_006712817.2:c.3125C>T	XP_006712880.1:p.Ala1042Val
XM_006712817.3:c.3125C>T	XP_006712880.1:p.Ala1042Val
XM_011512077.1:c.3185C>T	XP_011510379.1:p.Ala1062Val
XM_011512077.2:c.3185C>T	XP_011510379.1:p.Ala1062Val
XM_011512078.1:c.3185C>T	XP_011510380.1:p.Ala1062Val
XM_011512078.2:c.3185C>T	XP_011510380.1:p.Ala1062Val
XM_011512079.1:c.3185C>T	XP_011510381.1:p.Ala1062Val
XM_011512081.1:c.1409C>T	XP_011510383.1:p.Ala470Val
XM_011512081.2:c.1409C>T	XP_011510383.1:p.Ala470Val
XM_017005165.1:c.3185C>T	XP_016860654.1:p.Ala1062Val
XM_017005166.1:c.2414C>T	XP_016860655.1:p.Ala805Val
XM_017005167.1:c.1868C>T	XP_016860656.1:p.Ala623Val