Canonical Allele Identifier: CA9051417

Gene: ATP8B3

Linked Data

• ClinVar Variation Id: 425153
• ClinVar RCV Id: RCV000487705
• dbSNP Id: rs202073926
• ExAC: 19:1792019 C / T
• gnomAD v2: 19-1792019-C-T
• gnomAD v3: 19-1792020-C-T
• gnomAD v4: 19-1792020-C-T
• MyVariant Identifiers: chr19:g.1792019C>T (hg19) ; chr19:g.1792020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1792020C>T , CM000681.2:g.1792020C>T	GRCh38
NC_000019.9:g.1792019C>T , CM000681.1:g.1792019C>T	GRCh37
NC_000019.8:g.1743019C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310127.10:c.2171G>A MANE Select	ENSP00000311336.6:p.Arg724Gln
ENST00000525591.5:c.2030G>A	ENSP00000437115.1:p.Arg677Gln
ENST00000531925.5:c.*2137G>A	ENSP00000444334.1:n.*2137G>A
NM_001178002.2:c.2030G>A	NP_001171473.1:p.Arg677Gln
NM_138813.3:c.2171G>A	NP_620168.1:p.Arg724Gln
NR_047593.2:n.2637G>A
XM_006722654.2:c.2171G>A	XP_006722717.1:p.Arg724Gln
XM_006722655.2:c.2171G>A	XP_006722718.1:p.Arg724Gln
XM_006722656.2:c.1913G>A	XP_006722719.1:p.Arg638Gln
XM_006722657.2:c.2171G>A	XP_006722720.1:p.Arg724Gln
XM_011527707.1:c.2171G>A	XP_011526009.1:p.Arg724Gln
XM_011527708.1:c.2051G>A	XP_011526010.1:p.Arg684Gln
XM_011527709.1:c.2171G>A	XP_011526011.1:p.Arg724Gln
XM_011527710.1:c.1415G>A	XP_011526012.1:p.Arg472Gln
XM_011527711.1:c.2171G>A	XP_011526013.1:p.Arg724Gln
XM_011527712.1:c.311G>A	XP_011526014.1:p.Arg104Gln
XR_936159.1:n.2297G>A
XM_006722654.3:c.2171G>A	XP_006722717.1:p.Arg724Gln
XM_006722655.3:c.2171G>A	XP_006722718.1:p.Arg724Gln
XM_006722656.3:c.1913G>A	XP_006722719.1:p.Arg638Gln
XM_011527707.2:c.2171G>A	XP_011526009.1:p.Arg724Gln
XM_011527708.2:c.2051G>A	XP_011526010.1:p.Arg684Gln
XM_011527709.2:c.2171G>A	XP_011526011.1:p.Arg724Gln
XM_011527710.3:c.1415G>A	XP_011526012.1:p.Arg472Gln
XM_011527711.2:c.2171G>A	XP_011526013.1:p.Arg724Gln
XM_011527712.2:c.311G>A	XP_011526014.1:p.Arg104Gln
NM_001178002.3:c.2030G>A	NP_001171473.1:p.Arg677Gln
NM_138813.4:c.2171G>A MANE Select	NP_620168.1:p.Arg724Gln
NR_047593.3:n.2637G>A