Canonical Allele Identifier: CA2306153342

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1599238734

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57787207T>C , CM000680.2:g.57787207T>C	GRCh38
NC_000018.9:g.55454439T>C , CM000680.1:g.55454439T>C	GRCh37
NC_000018.8:g.53605437T>C	NCBI36
NG_007148.2:g.20889A>G
NG_007148.3:g.21616A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.-26+14725A>G	ENSP00000494712.1:n.-26+14725A>G
ENST00000648039.1:c.-26+15791A>G	ENSP00000497863.1:n.-26+15791A>G
ENST00000648908.2:c.-26+15791A>G MANE Select	ENSP00000497896.1:n.-26+15791A>G
ENST00000536015.5:c.-23+15791A>G	ENSP00000445359.1:n.-23+15791A>G
ENST00000591728.1:c.-23+15791A>G	ENSP00000467767.1:n.-23+15791A>G
NM_005603.4:c.-23+15791A>G	NP_005594.1:n.-23+15791A>G
XM_006722481.2:c.-26+15791A>G	XP_006722544.1:n.-26+15791A>G
XM_011526022.1:c.-23+14725A>G	XP_011524324.1:n.-23+14725A>G
XM_011526023.1:c.-26+15791A>G	XP_011524325.1:n.-26+15791A>G
XR_935523.1:n.349-5811T>C
NM_005603.6:c.-23+15791A>G	NP_005594.2:n.-23+15791A>G
XM_006722481.4:c.-26+15791A>G	XP_006722544.1:n.-26+15791A>G
XM_011526023.3:c.-26+15791A>G	XP_011524325.1:n.-26+15791A>G
NM_001374385.1:c.-26+15791A>G MANE Select	NP_001361314.1:n.-26+15791A>G
NM_001374386.1:c.-78+15791A>G	NP_001361315.1:n.-78+15791A>G