Canonical Allele Identifier: CA2439101175

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78013303A= , CM000685.2:g.78013303A= GRCh38
NC_000023.10:g.77268800A= , CM000685.1:g.77268800A= GRCh37
NC_000023.9:g.77155456A= NCBI36
NG_013224.2:g.107607A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.2436+191A= (ATP7A) ENSP00000343026.6:n.2436+191A=
ENST00000682475.1:n.824-1359A= (ATP7A)
ENST00000685264.1:c.2406+191A= (ATP7A) ENSP00000510136.1:n.2406+191A=
ENST00000686033.1:c.2406+191A= (ATP7A) ENSP00000510693.1:n.2406+191A=
ENST00000686133.1:c.2406+191A= (ATP7A) ENSP00000509233.1:n.2406+191A=
ENST00000686255.1:n.1437+191A= (ATP7A)
ENST00000686480.1:c.2173-1359A= (ATP7A) ENSP00000508978.1:n.2173-1359A=
ENST00000686543.1:c.2173-1359A= (ATP7A) ENSP00000509477.1:n.2173-1359A=
ENST00000686688.1:c.2406+191A= (ATP7A) ENSP00000509416.1:n.2406+191A=
ENST00000687086.1:c.2406+191A= (ATP7A) ENSP00000509566.1:n.2406+191A=
ENST00000688746.1:n.3953A= (ATP7A)
ENST00000689514.1:n.448+191A= (ATP7A)
ENST00000689530.1:c.2406+191A= (ATP7A) ENSP00000509707.1:n.2406+191A=
ENST00000689649.1:c.2406+191A= (ATP7A) ENSP00000509277.1:n.2406+191A=
ENST00000689767.1:c.2499+191A= (ATP7A) ENSP00000509406.1:n.2499+191A=
ENST00000689872.1:c.*355+191A= (ATP7A) ENSP00000509373.1:n.*355+191A=
ENST00000692908.1:c.2173-1359A= (ATP7A) ENSP00000508627.1:n.2173-1359A=
ENST00000693398.1:c.2406+191A= (ATP7A) ENSP00000510089.1:n.2406+191A=
ENST00000341514.11:c.2406+191A= (ATP7A) MANE Select ENSP00000345728.6:n.2406+191A=
ENST00000644362.1:c.-19-96564A= (PGK1) ENSP00000496140.1:n.-19-96564A=
ENST00000645094.1:c.*2320+191A= (ATP7A) ENSP00000493605.1:n.*2320+191A=
ENST00000341514.10:c.2406+191A= (ATP7A) ENSP00000345728.6:n.2406+191A=
ENST00000343533.9:c.2173-1359A= (ATP7A) ENSP00000343026.5:n.2173-1359A=
ENST00000350425.5:c.*1579+191A= (ATP7A) ENSP00000343678.5:n.*1579+191A=
NM_000052.6:c.2406+191A= (ATP7A) NP_000043.4:n.2406+191A=
NM_001282224.1:c.2173-1359A= (ATP7A) NP_001269153.1:n.2173-1359A=
NR_104109.1:n.322-18097A= (ATP7A)
NM_000052.7:c.2406+191A= (ATP7A) MANE Select NP_000043.4:n.2406+191A=
NR_104109.2:n.285-18097A= (ATP7A)
NM_001282224.2:c.2173-1359A= (ATP7A) NP_001269153.1:n.2173-1359A=