Canonical Allele Identifier: CA2306153348
Gene: ATP8B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57787214G= , CM000680.2:g.57787214G= GRCh38
NC_000018.9:g.55454446G= , CM000680.1:g.55454446G= GRCh37
NC_000018.8:g.53605444G= NCBI36
NG_007148.2:g.20882C=
NG_007148.3:g.21609C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.-26+14718C= ENSP00000494712.1:n.-26+14718C=
ENST00000648039.1:c.-26+15784C= ENSP00000497863.1:n.-26+15784C=
ENST00000648908.2:c.-26+15784C= MANE Select ENSP00000497896.1:n.-26+15784C=
ENST00000536015.5:c.-23+15784C= ENSP00000445359.1:n.-23+15784C=
ENST00000591728.1:c.-23+15784C= ENSP00000467767.1:n.-23+15784C=
NM_005603.4:c.-23+15784C= NP_005594.1:n.-23+15784C=
XM_006722481.2:c.-26+15784C= XP_006722544.1:n.-26+15784C=
XM_011526022.1:c.-23+14718C= XP_011524324.1:n.-23+14718C=
XM_011526023.1:c.-26+15784C= XP_011524325.1:n.-26+15784C=
XR_935523.1:n.349-5804G=
NM_005603.6:c.-23+15784C= NP_005594.2:n.-23+15784C=
XM_006722481.4:c.-26+15784C= XP_006722544.1:n.-26+15784C=
XM_011526023.3:c.-26+15784C= XP_011524325.1:n.-26+15784C=
NM_001374385.1:c.-26+15784C= MANE Select NP_001361314.1:n.-26+15784C=
NM_001374386.1:c.-78+15784C= NP_001361315.1:n.-78+15784C=