Canonical Allele Identifier: CA609974060
Community Standard Title: NC_000013.11:g.52011547T>A
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52011547T>A , CM000675.2:g.52011547T>A GRCh38
NC_000013.10:g.52585683T>A , CM000675.1:g.52585683T>A GRCh37
NC_000013.9:g.51483684T>A NCBI36
NG_008806.1:g.4948A>T
NG_028038.1:g.4161T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448424.7:c.-210A>T ENSP00000416738.3:n.-210A>T
ENST00000635406.1:n.107-156A>T
ENST00000673864.2:c.-210A>T ENSP00000501045.2:n.-210A>T
XM_005266427.2:c.-210A>T XP_005266484.1:n.-210A>T
XM_005266428.1:c.-210A>T XP_005266485.1:n.-210A>T
XM_005266430.3:c.-54-156A>T XP_005266487.1:n.-54-156A>T
XM_005266430.4:c.-54-156A>T XP_005266487.1:n.-54-156A>T
XM_005266432.2:c.-210A>T XP_005266489.1:n.-210A>T
XM_011535118.1:c.-210A>T XP_011533420.1:n.-210A>T
XM_011535119.1:c.-210A>T XP_011533421.1:n.-210A>T
XM_011535120.1:c.-210A>T XP_011533422.1:n.-210A>T
XM_011535121.1:c.-210A>T XP_011533423.1:n.-210A>T
XR_941601.1:n.10A>T
XR_941602.1:n.10A>T
XR_941603.1:n.10A>T
XR_941604.1:n.10A>T