Canonical Allele Identifier: CA9051354

Gene: ATP8B3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1791741G>A , CM000681.2:g.1791741G>A	GRCh38
NC_000019.9:g.1791740G>A , CM000681.1:g.1791740G>A	GRCh37
NC_000019.8:g.1742740G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138813.4:c.2302+9C>T MANE Select	NP_620168.1:n.2302+9C>T
ENST00000310127.10:c.2302+9C>T MANE Select	ENSP00000311336.6:n.2302+9C>T
NM_001178002.2:c.2191+9C>T	NP_001171473.1:n.2191+9C>T
NM_001178002.3:c.2191+9C>T	NP_001171473.1:n.2191+9C>T
NM_138813.3:c.2302+9C>T	NP_620168.1:n.2302+9C>T
NR_047593.2:n.2798+9C>T
NR_047593.3:n.2798+9C>T
ENST00000525591.5:c.2191+9C>T	ENSP00000437115.1:n.2191+9C>T
ENST00000531925.5:c.*2298+9C>T	ENSP00000444334.1:n.*2298+9C>T
XM_006722654.2:c.2332+9C>T	XP_006722717.1:n.2332+9C>T
XM_006722654.3:c.2332+9C>T	XP_006722717.1:n.2332+9C>T
XM_006722655.2:c.2332+9C>T	XP_006722718.1:n.2332+9C>T
XM_006722655.3:c.2332+9C>T	XP_006722718.1:n.2332+9C>T
XM_006722656.2:c.2074+9C>T	XP_006722719.1:n.2074+9C>T
XM_006722656.3:c.2074+9C>T	XP_006722719.1:n.2074+9C>T
XM_006722657.2:c.2332+9C>T	XP_006722720.1:n.2332+9C>T
XM_011527707.1:c.2332+9C>T	XP_011526009.1:n.2332+9C>T
XM_011527707.2:c.2332+9C>T	XP_011526009.1:n.2332+9C>T
XM_011527708.1:c.2212+9C>T	XP_011526010.1:n.2212+9C>T
XM_011527708.2:c.2212+9C>T	XP_011526010.1:n.2212+9C>T
XM_011527709.1:c.2332+9C>T	XP_011526011.1:n.2332+9C>T
XM_011527709.2:c.2332+9C>T	XP_011526011.1:n.2332+9C>T
XM_011527710.1:c.1576+9C>T	XP_011526012.1:n.1576+9C>T
XM_011527710.3:c.1576+9C>T	XP_011526012.1:n.1576+9C>T
XM_011527711.1:c.2332+9C>T	XP_011526013.1:n.2332+9C>T
XM_011527711.2:c.2332+9C>T	XP_011526013.1:n.2332+9C>T
XM_011527712.1:c.472+9C>T	XP_011526014.1:n.472+9C>T
XM_011527712.2:c.472+9C>T	XP_011526014.1:n.472+9C>T