Canonical Allele Identifier: CA8974506

Gene: ATP8B1

Linked Data

• dbSNP Id: rs148453277
• ExAC: 18:55342250 C / A
• gnomAD v2: 18-55342250-C-A
• MyVariant Identifiers: chr18:g.55342250C>A (hg19) ; chr18:g.57675018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57675018C>A , CM000680.2:g.57675018C>A	GRCh38
NC_000018.9:g.55342250C>A , CM000680.1:g.55342250C>A	GRCh37
NC_000018.8:g.53493248C>A	NCBI36
NG_007148.2:g.133078G>T
NG_007148.3:g.133805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1635G>T	ENSP00000494712.1:p.Gln545His
ENST00000648039.1:c.1635G>T	ENSP00000497863.1:p.Gln545His
ENST00000648467.1:c.1500G>T
ENST00000648908.2:c.1635G>T MANE Select	ENSP00000497896.1:p.Gln545His
ENST00000283684.8:c.1635G>T	ENSP00000283684.4:p.Gln545His
ENST00000536015.5:c.1635G>T	ENSP00000445359.1:p.Gln545His
NM_005603.4:c.1635G>T	NP_005594.1:p.Gln545His
XM_006722481.2:c.1635G>T	XP_006722544.1:p.Gln545His
XM_011526020.1:c.1635G>T	XP_011524322.1:p.Gln545His
XM_011526021.1:c.1635G>T	XP_011524323.1:p.Gln545His
XM_011526022.1:c.1635G>T	XP_011524324.1:p.Gln545His
XM_011526023.1:c.1521G>T	XP_011524325.1:p.Gln507His
XM_011526024.1:c.915G>T	XP_011524326.1:p.Gln305His
NM_005603.6:c.1635G>T	NP_005594.2:p.Gln545His
XM_006722481.4:c.1635G>T	XP_006722544.1:p.Gln545His
XM_011526023.3:c.1521G>T	XP_011524325.1:p.Gln507His
NM_001374385.1:c.1635G>T MANE Select	NP_001361314.1:p.Gln545His
NM_001374386.1:c.1485G>T	NP_001361315.1:p.Gln495His