Canonical Allele Identifier: CA483893773
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2141940
ClinVar RCV Id: RCV003060496
MyVariant Identifiers: chr13:g.52513265G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51939129G>A , CM000675.2:g.51939129G>A GRCh38
NC_000013.10:g.52513265G>A , CM000675.1:g.52513265G>A GRCh37
NC_000013.9:g.51411266G>A NCBI36
NG_008806.1:g.77366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1271C>T ENSP00000489512.2:n.*1271C>T
ENST00000673864.2:c.*2365C>T ENSP00000501045.2:n.*2365C>T
ENST00000674147.2:c.3000C>T ENSP00000500964.2:p.His1000=
ENST00000242839.10:c.3621C>T MANE Select ENSP00000242839.5:p.His1207=
ENST00000344297.9:c.3000C>T ENSP00000342559.5:p.His1000=
ENST00000400366.6:c.3288C>T ENSP00000383217.3:p.His1096=
ENST00000448424.7:c.3369C>T ENSP00000416738.3:p.His1123=
ENST00000673696.1:n.862C>T
ENST00000673772.1:c.3387C>T ENSP00000501168.1:p.His1129=
ENST00000673867.1:n.3760C>T
ENST00000673923.1:n.487C>T
ENST00000674147.1:c.2556C>T ENSP00000500964.1:p.His852=
ENST00000242839.8:c.3621C>T ENSP00000242839.4:p.His1207=
ENST00000344297.8:c.3000C>T ENSP00000342559.5:p.His1000=
ENST00000400366.5:c.3288C>T ENSP00000383217.3:p.His1096=
ENST00000400370.8:c.2331C>T ENSP00000383221.3:p.His777=
ENST00000418097.7:c.3426C>T ENSP00000393343.2:p.His1142=
ENST00000448424.6:c.3387C>T ENSP00000416738.2:p.His1129=
ENST00000634296.1:c.1399C>T
ENST00000634308.1:c.*722C>T ENSP00000489234.1:n.*722C>T
ENST00000634620.1:n.4365C>T
ENST00000634810.1:n.2966C>T
ENST00000634844.1:c.3477C>T ENSP00000489398.1:p.His1159=
NM_000053.3:c.3621C>T NP_000044.2:p.His1207=
NM_001005918.2:c.3000C>T NP_001005918.1:p.His1000=
NM_001243182.1:c.3288C>T NP_001230111.1:p.His1096=
XM_005266423.2:c.3525C>T XP_005266480.1:p.His1175=
XM_005266424.3:c.3525C>T XP_005266481.1:p.His1175=
XM_005266427.2:c.3387C>T XP_005266484.1:p.His1129=
XM_005266428.1:c.3369C>T XP_005266485.1:p.His1123=
XM_005266430.3:c.3621C>T XP_005266487.1:p.His1207=
XM_005266431.2:c.3585C>T XP_005266488.1:p.His1195=
XM_005266432.2:c.3135C>T XP_005266489.1:p.His1045=
XM_006719837.2:c.3525C>T XP_006719900.1:p.His1175=
XM_006719838.1:c.1437C>T XP_006719901.1:p.His479=
XM_006719839.1:c.1254C>T XP_006719902.1:p.His418=
XM_011535117.1:c.3525C>T XP_011533419.1:p.His1175=
XM_011535118.1:c.3486C>T XP_011533420.1:p.His1162=
XM_011535119.1:c.3438C>T XP_011533421.1:p.His1146=
XM_011535120.1:c.3207C>T XP_011533422.1:p.His1069=
XM_011535121.1:c.3108C>T XP_011533423.1:p.His1036=
XM_011535122.1:c.2289C>T XP_011533424.1:p.His763=
XR_941601.1:n.3840C>T
XR_941602.1:n.3840C>T
XR_941603.1:n.3840C>T
XR_941604.1:n.3840C>T
NM_001330578.1:c.3387C>T NP_001317507.1:p.His1129=
NM_001330579.1:c.3369C>T NP_001317508.1:p.His1123=
XM_005266424.4:c.3525C>T XP_005266481.1:p.His1175=
XM_005266430.4:c.3621C>T XP_005266487.1:p.His1207=
XM_005266431.4:c.3585C>T XP_005266488.1:p.His1195=
XM_006719837.3:c.3525C>T XP_006719900.1:p.His1175=
XM_011535117.3:c.3525C>T XP_011533419.1:p.His1175=
XM_017020627.1:c.3525C>T XP_016876116.1:p.His1175=
NM_000053.4:c.3621C>T MANE Select NP_000044.2:p.His1207=
NM_001005918.3:c.3000C>T NP_001005918.1:p.His1000=
NM_001330579.2:c.3369C>T NP_001317508.1:p.His1123=
NM_001243182.2:c.3288C>T NP_001230111.1:p.His1096=
NM_001330578.2:c.3387C>T NP_001317507.1:p.His1129=