Canonical Allele Identifier: CA2306153312
Gene: ATP8B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57787109T= , CM000680.2:g.57787109T= GRCh38
NC_000018.9:g.55454341T= , CM000680.1:g.55454341T= GRCh37
NC_000018.8:g.53605339T= NCBI36
NG_007148.2:g.20987A=
NG_007148.3:g.21714A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.-26+14823A= ENSP00000494712.1:n.-26+14823A=
ENST00000648039.1:c.-26+15889A= ENSP00000497863.1:n.-26+15889A=
ENST00000648908.2:c.-26+15889A= MANE Select ENSP00000497896.1:n.-26+15889A=
ENST00000536015.5:c.-23+15889A= ENSP00000445359.1:n.-23+15889A=
ENST00000591728.1:c.-23+15889A= ENSP00000467767.1:n.-23+15889A=
NM_005603.4:c.-23+15889A= NP_005594.1:n.-23+15889A=
XM_006722481.2:c.-26+15889A= XP_006722544.1:n.-26+15889A=
XM_011526022.1:c.-23+14823A= XP_011524324.1:n.-23+14823A=
XM_011526023.1:c.-26+15889A= XP_011524325.1:n.-26+15889A=
XR_935523.1:n.349-5909T=
NM_005603.6:c.-23+15889A= NP_005594.2:n.-23+15889A=
XM_006722481.4:c.-26+15889A= XP_006722544.1:n.-26+15889A=
XM_011526023.3:c.-26+15889A= XP_011524325.1:n.-26+15889A=
NM_001374385.1:c.-26+15889A= MANE Select NP_001361314.1:n.-26+15889A=
NM_001374386.1:c.-78+15889A= NP_001361315.1:n.-78+15889A=