Canonical Allele Identifier: CA10459412

Linked Data

dbSNP Id: rs782591033
gnomAD v2: X-77289220-G-A
gnomAD v4: X-78033722-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78033722G>A , CM000685.2:g.78033722G>A GRCh38
NC_000023.10:g.77289220G>A , CM000685.1:g.77289220G>A GRCh37
NC_000023.9:g.77175876G>A NCBI36
NG_013224.2:g.128026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343533.10:c.3442G>A (ATP7A) ENSP00000343026.6:p.Glu1148Lys
ENST00000682475.1:n.1829G>A (ATP7A)
ENST00000685033.1:c.676G>A (ATP7A) ENSP00000509269.1:p.Glu226Lys
ENST00000685264.1:c.3412G>A (ATP7A) ENSP00000510136.1:p.Glu1138Lys
ENST00000686033.1:c.3217G>A (ATP7A) ENSP00000510693.1:p.Glu1073Lys
ENST00000686133.1:c.3412G>A (ATP7A) ENSP00000509233.1:p.Glu1138Lys
ENST00000686255.1:n.2443G>A (ATP7A)
ENST00000686543.1:c.3178G>A (ATP7A) ENSP00000509477.1:p.Glu1060Lys
ENST00000687086.1:c.3412G>A (ATP7A) ENSP00000509566.1:p.Glu1138Lys
ENST00000689514.1:n.1454G>A (ATP7A)
ENST00000689767.1:c.3505G>A (ATP7A) ENSP00000509406.1:p.Glu1169Lys
ENST00000692908.1:c.3178G>A (ATP7A) ENSP00000508627.1:p.Glu1060Lys
ENST00000341514.11:c.3412G>A (ATP7A) MANE Select ENSP00000345728.6:p.Glu1138Lys
ENST00000644362.1:c.-19-76145G>A (PGK1) ENSP00000496140.1:n.-19-76145G>A
ENST00000645094.1:c.*3326G>A (ATP7A) ENSP00000493605.1:n.*3326G>A
ENST00000341514.10:c.3412G>A (ATP7A) ENSP00000345728.6:p.Glu1138Lys
ENST00000343533.9:c.3178G>A (ATP7A) ENSP00000343026.5:p.Glu1060Lys
ENST00000350425.5:c.*2585G>A (ATP7A) ENSP00000343678.5:n.*2585G>A
NM_000052.6:c.3412G>A (ATP7A) NP_000043.4:p.Glu1138Lys
NM_001282224.1:c.3178G>A (ATP7A) NP_001269153.1:p.Glu1060Lys
NR_104109.1:n.622G>A (ATP7A)
NM_000052.7:c.3412G>A (ATP7A) MANE Select NP_000043.4:p.Glu1138Lys
NR_104109.2:n.585G>A (ATP7A)
NM_001282224.2:c.3178G>A (ATP7A) NP_001269153.1:p.Glu1060Lys