Canonical Allele Identifier: CA2306153352

Gene: ATP8B1

Linked Data

• dbSNP Id: rs2080418264

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57787232A>G , CM000680.2:g.57787232A>G	GRCh38
NC_000018.9:g.55454464A>G , CM000680.1:g.55454464A>G	GRCh37
NC_000018.8:g.53605462A>G	NCBI36
NG_007148.2:g.20864T>C
NG_007148.3:g.21591T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.-26+14700T>C	ENSP00000494712.1:n.-26+14700T>C
ENST00000648039.1:c.-26+15766T>C	ENSP00000497863.1:n.-26+15766T>C
ENST00000648908.2:c.-26+15766T>C MANE Select	ENSP00000497896.1:n.-26+15766T>C
ENST00000536015.5:c.-23+15766T>C	ENSP00000445359.1:n.-23+15766T>C
ENST00000591728.1:c.-23+15766T>C	ENSP00000467767.1:n.-23+15766T>C
NM_005603.4:c.-23+15766T>C	NP_005594.1:n.-23+15766T>C
XM_006722481.2:c.-26+15766T>C	XP_006722544.1:n.-26+15766T>C
XM_011526022.1:c.-23+14700T>C	XP_011524324.1:n.-23+14700T>C
XM_011526023.1:c.-26+15766T>C	XP_011524325.1:n.-26+15766T>C
XR_935523.1:n.349-5786A>G
NM_005603.6:c.-23+15766T>C	NP_005594.2:n.-23+15766T>C
XM_006722481.4:c.-26+15766T>C	XP_006722544.1:n.-26+15766T>C
XM_011526023.3:c.-26+15766T>C	XP_011524325.1:n.-26+15766T>C
NM_001374385.1:c.-26+15766T>C MANE Select	NP_001361314.1:n.-26+15766T>C
NM_001374386.1:c.-78+15766T>C	NP_001361315.1:n.-78+15766T>C