Canonical Allele Identifier: CA2439107677

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78033864G= , CM000685.2:g.78033864G= GRCh38
NC_000023.10:g.77289362G= , CM000685.1:g.77289362G= GRCh37
NC_000023.9:g.77176018G= NCBI36
NG_013224.2:g.128168G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.3541+43G= (ATP7A) ENSP00000343026.6:n.3541+43G=
ENST00000682475.1:n.1928+43G= (ATP7A)
ENST00000685033.1:c.775+43G= (ATP7A) ENSP00000509269.1:n.775+43G=
ENST00000685264.1:c.3511+43G= (ATP7A) ENSP00000510136.1:n.3511+43G=
ENST00000686033.1:c.3316+43G= (ATP7A) ENSP00000510693.1:n.3316+43G=
ENST00000686133.1:c.3511+43G= (ATP7A) ENSP00000509233.1:n.3511+43G=
ENST00000686255.1:n.2542+43G= (ATP7A)
ENST00000686543.1:c.3277+43G= (ATP7A) ENSP00000509477.1:n.3277+43G=
ENST00000687086.1:c.3511+43G= (ATP7A) ENSP00000509566.1:n.3511+43G=
ENST00000689514.1:n.1553+43G= (ATP7A)
ENST00000689767.1:c.3604+43G= (ATP7A) ENSP00000509406.1:n.3604+43G=
ENST00000692908.1:c.3277+43G= (ATP7A) ENSP00000508627.1:n.3277+43G=
ENST00000341514.11:c.3511+43G= (ATP7A) MANE Select ENSP00000345728.6:n.3511+43G=
ENST00000644362.1:c.-19-76003G= (PGK1) ENSP00000496140.1:n.-19-76003G=
ENST00000645094.1:c.*3425+43G= (ATP7A) ENSP00000493605.1:n.*3425+43G=
ENST00000341514.10:c.3511+43G= (ATP7A) ENSP00000345728.6:n.3511+43G=
ENST00000343533.9:c.3277+43G= (ATP7A) ENSP00000343026.5:n.3277+43G=
ENST00000350425.5:c.*2684+43G= (ATP7A) ENSP00000343678.5:n.*2684+43G=
NM_000052.6:c.3511+43G= (ATP7A) NP_000043.4:n.3511+43G=
NM_001282224.1:c.3277+43G= (ATP7A) NP_001269153.1:n.3277+43G=
NR_104109.1:n.721+43G= (ATP7A)
NM_000052.7:c.3511+43G= (ATP7A) MANE Select NP_000043.4:n.3511+43G=
NR_104109.2:n.684+43G= (ATP7A)
NM_001282224.2:c.3277+43G= (ATP7A) NP_001269153.1:n.3277+43G=