Canonical Allele Identifier: CA403184365
Gene: ATP8B3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1811604C>G , CM000681.2:g.1811604C>G GRCh38
NC_000019.9:g.1811603C>G , CM000681.1:g.1811603C>G GRCh37
NC_000019.8:g.1762603C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310127.10:c.133G>C MANE Select ENSP00000311336.6:p.Gly45Arg
ENST00000525591.5:c.-27G>C ENSP00000437115.1:n.-27G>C
ENST00000526092.6:c.-27G>C ENSP00000445204.1:n.-27G>C
ENST00000531925.5:c.133G>C ENSP00000444334.1:p.Gly45Arg
ENST00000533993.5:n.21G>C
ENST00000587160.2:c.133G>C ENSP00000465027.2:p.Gly45Arg
NM_001178002.2:c.-27G>C NP_001171473.1:n.-27G>C
NM_138813.3:c.133G>C NP_620168.1:p.Gly45Arg
NR_047593.2:n.372G>C
XM_006722654.2:c.133G>C XP_006722717.1:p.Gly45Arg
XM_006722655.2:c.133G>C XP_006722718.1:p.Gly45Arg
XM_006722656.2:c.-14G>C XP_006722719.1:n.-14G>C
XM_006722657.2:c.133G>C XP_006722720.1:p.Gly45Arg
XM_011527707.1:c.133G>C XP_011526009.1:p.Gly45Arg
XM_011527708.1:c.133G>C XP_011526010.1:p.Gly45Arg
XM_011527709.1:c.133G>C XP_011526011.1:p.Gly45Arg
XM_011527711.1:c.133G>C XP_011526013.1:p.Gly45Arg
XR_936159.1:n.372G>C
XM_006722654.3:c.133G>C XP_006722717.1:p.Gly45Arg
XM_006722655.3:c.133G>C XP_006722718.1:p.Gly45Arg
XM_006722656.3:c.-14G>C XP_006722719.1:n.-14G>C
XM_011527707.2:c.133G>C XP_011526009.1:p.Gly45Arg
XM_011527708.2:c.133G>C XP_011526010.1:p.Gly45Arg
XM_011527709.2:c.133G>C XP_011526011.1:p.Gly45Arg
XM_011527711.2:c.133G>C XP_011526013.1:p.Gly45Arg
NM_001178002.3:c.-27G>C NP_001171473.1:n.-27G>C
NM_138813.4:c.133G>C MANE Select NP_620168.1:p.Gly45Arg
NR_047593.3:n.372G>C