Canonical Allele Identifier: CA245228

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169014326C>T , CM000664.2:g.169014326C>T	GRCh38
NC_000002.11:g.169870836C>T , CM000664.1:g.169870836C>T	GRCh37
NC_000002.10:g.169579082C>T	NCBI36
NG_007374.1:g.21998G>A
NG_007374.2:g.22071G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.127G>A MANE Select	NP_003733.2:p.Val43Ile
ENST00000650372.1:c.127G>A MANE Select	ENSP00000497931.1:p.Val43Ile
NM_003742.2:c.127G>A	NP_003733.2:p.Val43Ile
ENST00000263817.6:c.127G>A	ENSP00000263817.6:p.Val43Ile
XM_006712817.2:c.169G>A	XP_006712880.1:p.Val57Ile
XM_006712817.3:c.169G>A	XP_006712880.1:p.Val57Ile
XM_011512077.1:c.229G>A	XP_011510379.1:p.Val77Ile
XM_011512077.2:c.229G>A	XP_011510379.1:p.Val77Ile
XM_011512078.1:c.229G>A	XP_011510380.1:p.Val77Ile
XM_011512078.2:c.229G>A	XP_011510380.1:p.Val77Ile
XM_011512079.1:c.229G>A	XP_011510381.1:p.Val77Ile
XM_011512080.1:c.229G>A	XP_011510382.1:p.Val77Ile
XM_011512080.2:c.229G>A	XP_011510382.1:p.Val77Ile
XM_017005165.1:c.229G>A	XP_016860654.1:p.Val77Ile