Canonical Allele Identifier: CA301364494

Gene: ATP8B1

Linked Data

• dbSNP Id: rs957288538
• gnomAD v3: 18-57787092-G-T
• gnomAD v4: 18-57787092-G-T
• MyVariant Identifiers: chr18:g.55454324G>T (hg19) ; chr18:g.57787092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57787092G>T , CM000680.2:g.57787092G>T	GRCh38
NC_000018.9:g.55454324G>T , CM000680.1:g.55454324G>T	GRCh37
NC_000018.8:g.53605322G>T	NCBI36
NG_007148.2:g.21004C>A
NG_007148.3:g.21731C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.-26+14840C>A	ENSP00000494712.1:n.-26+14840C>A
ENST00000648039.1:c.-26+15906C>A	ENSP00000497863.1:n.-26+15906C>A
ENST00000648908.2:c.-26+15906C>A MANE Select	ENSP00000497896.1:n.-26+15906C>A
ENST00000536015.5:c.-23+15906C>A	ENSP00000445359.1:n.-23+15906C>A
ENST00000591728.1:c.-23+15906C>A	ENSP00000467767.1:n.-23+15906C>A
NM_005603.4:c.-23+15906C>A	NP_005594.1:n.-23+15906C>A
XM_006722481.2:c.-26+15906C>A	XP_006722544.1:n.-26+15906C>A
XM_011526022.1:c.-23+14840C>A	XP_011524324.1:n.-23+14840C>A
XM_011526023.1:c.-26+15906C>A	XP_011524325.1:n.-26+15906C>A
XR_935523.1:n.349-5926G>T
NM_005603.6:c.-23+15906C>A	NP_005594.2:n.-23+15906C>A
XM_006722481.4:c.-26+15906C>A	XP_006722544.1:n.-26+15906C>A
XM_011526023.3:c.-26+15906C>A	XP_011524325.1:n.-26+15906C>A
NM_001374385.1:c.-26+15906C>A MANE Select	NP_001361314.1:n.-26+15906C>A
NM_001374386.1:c.-78+15906C>A	NP_001361315.1:n.-78+15906C>A