Canonical Allele Identifier: CA10641895

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57803023G>A , CM000680.2:g.57803023G>A	GRCh38
NC_000018.9:g.55470255G>A , CM000680.1:g.55470255G>A	GRCh37
NC_000018.8:g.53621253G>A	NCBI36
NG_007148.2:g.5073C>T
NG_007148.3:g.5800C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001374385.1:c.-51C>T MANE Select	NP_001361314.1:n.-51C>T
ENST00000648908.2:c.-51C>T MANE Select	ENSP00000497896.1:n.-51C>T
NM_001374386.1:c.-103C>T	NP_001361315.1:n.-103C>T
NM_005603.4:c.-48C>T	NP_005594.1:n.-48C>T
NM_005603.6:c.-48C>T	NP_005594.2:n.-48C>T
ENST00000536015.5:c.-48C>T	ENSP00000445359.1:n.-48C>T
ENST00000591728.1:c.-48C>T	ENSP00000467767.1:n.-48C>T
ENST00000648039.1:c.-51C>T	ENSP00000497863.1:n.-51C>T
XM_006722481.2:c.-51C>T	XP_006722544.1:n.-51C>T
XM_006722481.4:c.-51C>T	XP_006722544.1:n.-51C>T
XM_011526023.1:c.-51C>T	XP_011524325.1:n.-51C>T
XM_011526023.3:c.-51C>T	XP_011524325.1:n.-51C>T