Canonical Allele Identifier: CA9052436
Gene: ATP8B3 HGNC NCBI
COSMIC:
COSM3756486 (not active)
MyVariant.info:
GRCh38 chr19:g.1811604C>T
GRCh37 chr19:g.1811603C>T
Revel Score:
ENST00000310127 (MANE Select) 0.116
ENST00000539485 0.116
gnomAD v2:
19:1811603 C / T
gnomAD v3:
19:1811604 C / T
gnomAD v4:
chr19-1811604-C-T
Joint Max Group AF 0.47646011 (AFR)
Genomes Max Group AF 0.46701217 (AFR)
Exomes Max Group AF 0.48433809 (AFR)
dbSNP:
7250872
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Genomic Alleles

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

Transcript Alleles

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