Canonical Allele Identifier: CA2306111644

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694621T= , CM000680.2:g.57694621T=	GRCh38
NC_000018.9:g.55361853T= , CM000680.1:g.55361853T=	GRCh37
NC_000018.8:g.53512851T=	NCBI36
NG_007148.2:g.113475A=
NG_007148.3:g.114202A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.990A=	ENSP00000494712.1:p.Arg330=
ENST00000648039.1:c.990A=	ENSP00000497863.1:p.Arg330=
ENST00000648467.1:c.823A=
ENST00000648908.2:c.990A= MANE Select	ENSP00000497896.1:p.Arg330=
ENST00000283684.8:c.990A=	ENSP00000283684.4:p.Arg330=
ENST00000536015.5:c.990A=	ENSP00000445359.1:p.Arg330=
NM_005603.4:c.990A=	NP_005594.1:p.Arg330=
XM_006722481.2:c.990A=	XP_006722544.1:p.Arg330=
XM_011526020.1:c.990A=	XP_011524322.1:p.Arg330=
XM_011526021.1:c.990A=	XP_011524323.1:p.Arg330=
XM_011526022.1:c.990A=	XP_011524324.1:p.Arg330=
XM_011526023.1:c.876A=	XP_011524325.1:p.Arg292=
XM_011526024.1:c.270A=	XP_011524326.1:p.Arg90=
XR_935525.1:n.32-1324T=
XR_935526.1:n.32-1324T=
NM_005603.6:c.990A=	NP_005594.2:p.Arg330=
XM_006722481.4:c.990A=	XP_006722544.1:p.Arg330=
XM_011526023.3:c.876A=	XP_011524325.1:p.Arg292=
NM_001374385.1:c.990A= MANE Select	NP_001361314.1:p.Arg330=
NM_001374386.1:c.840A=	NP_001361315.1:p.Arg280=