Canonical Allele Identifier: CA2439100638

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78011698A= , CM000685.2:g.78011698A= GRCh38
NC_000023.10:g.77267195A= , CM000685.1:g.77267195A= GRCh37
NC_000023.9:g.77153851A= NCBI36
NG_013224.2:g.106002A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.2202+24A= (ATP7A) ENSP00000343026.6:n.2202+24A=
ENST00000682475.1:n.823+24A= (ATP7A)
ENST00000685264.1:c.2172+24A= (ATP7A) ENSP00000510136.1:n.2172+24A=
ENST00000686033.1:c.2172+24A= (ATP7A) ENSP00000510693.1:n.2172+24A=
ENST00000686133.1:c.2172+24A= (ATP7A) ENSP00000509233.1:n.2172+24A=
ENST00000686255.1:n.1203+24A= (ATP7A)
ENST00000686480.1:c.2172+24A= (ATP7A) ENSP00000508978.1:n.2172+24A=
ENST00000686515.1:n.2312+24A= (ATP7A)
ENST00000686543.1:c.2172+24A= (ATP7A) ENSP00000509477.1:n.2172+24A=
ENST00000686688.1:c.2172+24A= (ATP7A) ENSP00000509416.1:n.2172+24A=
ENST00000686999.1:n.2507A= (ATP7A)
ENST00000687086.1:c.2172+24A= (ATP7A) ENSP00000509566.1:n.2172+24A=
ENST00000687628.1:n.4405A= (ATP7A)
ENST00000688746.1:n.2348A= (ATP7A)
ENST00000689514.1:n.214+24A= (ATP7A)
ENST00000689530.1:c.2172+24A= (ATP7A) ENSP00000509707.1:n.2172+24A=
ENST00000689649.1:c.2172+24A= (ATP7A) ENSP00000509277.1:n.2172+24A=
ENST00000689767.1:c.2265+24A= (ATP7A) ENSP00000509406.1:n.2265+24A=
ENST00000689872.1:c.*121+24A= (ATP7A) ENSP00000509373.1:n.*121+24A=
ENST00000692908.1:c.2172+24A= (ATP7A) ENSP00000508627.1:n.2172+24A=
ENST00000693398.1:c.2172+24A= (ATP7A) ENSP00000510089.1:n.2172+24A=
ENST00000341514.11:c.2172+24A= (ATP7A) MANE Select ENSP00000345728.6:n.2172+24A=
ENST00000644362.1:c.-19-98169A= (PGK1) ENSP00000496140.1:n.-19-98169A=
ENST00000645094.1:c.*2086+24A= (ATP7A) ENSP00000493605.1:n.*2086+24A=
ENST00000341514.10:c.2172+24A= (ATP7A) ENSP00000345728.6:n.2172+24A=
ENST00000343533.9:c.2172+24A= (ATP7A) ENSP00000343026.5:n.2172+24A=
ENST00000350425.5:c.*1345+24A= (ATP7A) ENSP00000343678.5:n.*1345+24A=
NM_000052.6:c.2172+24A= (ATP7A) NP_000043.4:n.2172+24A=
NM_001282224.1:c.2172+24A= (ATP7A) NP_001269153.1:n.2172+24A=
NR_104109.1:n.322-19702A= (ATP7A)
NM_000052.7:c.2172+24A= (ATP7A) MANE Select NP_000043.4:n.2172+24A=
NR_104109.2:n.285-19702A= (ATP7A)
NM_001282224.2:c.2172+24A= (ATP7A) NP_001269153.1:n.2172+24A=