Canonical Allele Identifier: CA6989503
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2140354
ClinVar RCV Id: RCV003066827
dbSNP Id: rs192444554

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51974472C>T , CM000675.2:g.51974472C>T GRCh38
NC_000013.10:g.52548608C>T , CM000675.1:g.52548608C>T GRCh37
NC_000013.9:g.51446609C>T NCBI36
NG_008806.1:g.42023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.748G>A ENSP00000489512.2:p.Gly250Arg
ENST00000673864.2:c.748G>A ENSP00000501045.2:p.Gly250Arg
ENST00000674147.2:c.748G>A ENSP00000500964.2:p.Gly250Arg
ENST00000242839.10:c.748G>A MANE Select ENSP00000242839.5:p.Gly250Arg
ENST00000344297.9:c.748G>A ENSP00000342559.5:p.Gly250Arg
ENST00000400366.6:c.748G>A ENSP00000383217.3:p.Gly250Arg
ENST00000448424.7:c.748G>A ENSP00000416738.3:p.Gly250Arg
ENST00000673772.1:c.748G>A ENSP00000501168.1:p.Gly250Arg
ENST00000674078.1:n.853G>A
ENST00000674147.1:c.304G>A ENSP00000500964.1:p.Gly102Arg
ENST00000242839.8:c.748G>A ENSP00000242839.4:p.Gly250Arg
ENST00000344297.8:c.748G>A ENSP00000342559.5:p.Gly250Arg
ENST00000400366.5:c.748G>A ENSP00000383217.3:p.Gly250Arg
ENST00000400370.8:c.748G>A ENSP00000383221.3:p.Gly250Arg
ENST00000418097.7:c.748G>A ENSP00000393343.2:p.Gly250Arg
ENST00000448424.6:c.748G>A ENSP00000416738.2:p.Gly250Arg
ENST00000482841.6:n.869G>A
ENST00000634308.1:c.748G>A ENSP00000489234.1:p.Gly250Arg
ENST00000634844.1:c.748G>A ENSP00000489398.1:p.Gly250Arg
ENST00000635406.1:n.212-27994G>A
NM_000053.3:c.748G>A NP_000044.2:p.Gly250Arg
NM_001005918.2:c.748G>A NP_001005918.1:p.Gly250Arg
NM_001243182.1:c.748G>A NP_001230111.1:p.Gly250Arg
XM_005266423.2:c.652G>A XP_005266480.1:p.Gly218Arg
XM_005266424.3:c.652G>A XP_005266481.1:p.Gly218Arg
XM_005266427.2:c.748G>A XP_005266484.1:p.Gly250Arg
XM_005266428.1:c.748G>A XP_005266485.1:p.Gly250Arg
XM_005266430.3:c.748G>A XP_005266487.1:p.Gly250Arg
XM_005266431.2:c.712G>A XP_005266488.1:p.Gly238Arg
XM_005266432.2:c.748G>A XP_005266489.1:p.Gly250Arg
XM_006719837.2:c.652G>A XP_006719900.1:p.Gly218Arg
XM_011535117.1:c.652G>A XP_011533419.1:p.Gly218Arg
XM_011535118.1:c.748G>A XP_011533420.1:p.Gly250Arg
XM_011535119.1:c.748G>A XP_011533421.1:p.Gly250Arg
XM_011535120.1:c.748G>A XP_011533422.1:p.Gly250Arg
XM_011535121.1:c.748G>A XP_011533423.1:p.Gly250Arg
XR_941601.1:n.967G>A
XR_941602.1:n.967G>A
XR_941603.1:n.967G>A
XR_941604.1:n.967G>A
NM_001330578.1:c.748G>A NP_001317507.1:p.Gly250Arg
NM_001330579.1:c.748G>A NP_001317508.1:p.Gly250Arg
XM_005266424.4:c.652G>A XP_005266481.1:p.Gly218Arg
XM_005266430.4:c.748G>A XP_005266487.1:p.Gly250Arg
XM_005266431.4:c.712G>A XP_005266488.1:p.Gly238Arg
XM_006719837.3:c.652G>A XP_006719900.1:p.Gly218Arg
XM_011535117.3:c.652G>A XP_011533419.1:p.Gly218Arg
XM_017020627.1:c.652G>A XP_016876116.1:p.Gly218Arg
NM_000053.4:c.748G>A MANE Select NP_000044.2:p.Gly250Arg
NM_001005918.3:c.748G>A NP_001005918.1:p.Gly250Arg
NM_001330579.2:c.748G>A NP_001317508.1:p.Gly250Arg
NM_001243182.2:c.748G>A NP_001230111.1:p.Gly250Arg
NM_001330578.2:c.748G>A NP_001317507.1:p.Gly250Arg