Canonical Allele Identifier: CA2306153350
Gene: ATP8B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57787224C= , CM000680.2:g.57787224C= GRCh38
NC_000018.9:g.55454456C= , CM000680.1:g.55454456C= GRCh37
NC_000018.8:g.53605454C= NCBI36
NG_007148.2:g.20872G=
NG_007148.3:g.21599G=

Transcript Alleles

HGVS Amino-acid change
ENST00000642462.1:c.-26+14708G= ENSP00000494712.1:n.-26+14708G=
ENST00000648039.1:c.-26+15774G= ENSP00000497863.1:n.-26+15774G=
ENST00000648908.2:c.-26+15774G= MANE Select ENSP00000497896.1:n.-26+15774G=
ENST00000536015.5:c.-23+15774G= ENSP00000445359.1:n.-23+15774G=
ENST00000591728.1:c.-23+15774G= ENSP00000467767.1:n.-23+15774G=
NM_005603.4:c.-23+15774G= NP_005594.1:n.-23+15774G=
XM_006722481.2:c.-26+15774G= XP_006722544.1:n.-26+15774G=
XM_011526022.1:c.-23+14708G= XP_011524324.1:n.-23+14708G=
XM_011526023.1:c.-26+15774G= XP_011524325.1:n.-26+15774G=
XR_935523.1:n.349-5794C=
NM_005603.6:c.-23+15774G= NP_005594.2:n.-23+15774G=
XM_006722481.4:c.-26+15774G= XP_006722544.1:n.-26+15774G=
XM_011526023.3:c.-26+15774G= XP_011524325.1:n.-26+15774G=
NM_001374385.1:c.-26+15774G= MANE Select NP_001361314.1:n.-26+15774G=
NM_001374386.1:c.-78+15774G= NP_001361315.1:n.-78+15774G=