Canonical Allele Identifier: CA2306103188
Gene: ATP8B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57674978C= , CM000680.2:g.57674978C= GRCh38
NC_000018.9:g.55342210C= , CM000680.1:g.55342210C= GRCh37
NC_000018.8:g.53493208C= NCBI36
NG_007148.2:g.133118G=
NG_007148.3:g.133845G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.1675G= ENSP00000494712.1:p.Val559=
ENST00000648039.1:c.1675G= ENSP00000497863.1:p.Val559=
ENST00000648467.1:c.1540G=
ENST00000648908.2:c.1675G= MANE Select ENSP00000497896.1:p.Val559=
ENST00000283684.8:c.1675G= ENSP00000283684.4:p.Val559=
ENST00000536015.5:c.1675G= ENSP00000445359.1:p.Val559=
NM_005603.4:c.1675G= NP_005594.1:p.Val559=
XM_006722481.2:c.1675G= XP_006722544.1:p.Val559=
XM_011526020.1:c.1675G= XP_011524322.1:p.Val559=
XM_011526021.1:c.1675G= XP_011524323.1:p.Val559=
XM_011526022.1:c.1675G= XP_011524324.1:p.Val559=
XM_011526023.1:c.1561G= XP_011524325.1:p.Val521=
XM_011526024.1:c.955G= XP_011524326.1:p.Val319=
NM_005603.6:c.1675G= NP_005594.2:p.Val559=
XM_006722481.4:c.1675G= XP_006722544.1:p.Val559=
XM_011526023.3:c.1561G= XP_011524325.1:p.Val521=
NM_001374385.1:c.1675G= MANE Select NP_001361314.1:p.Val559=
NM_001374386.1:c.1525G= NP_001361315.1:p.Val509=