Canonical Allele Identifier: CA413603393

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78029436G>A , CM000685.2:g.78029436G>A	GRCh38
NC_000023.10:g.77284933G>A , CM000685.1:g.77284933G>A	GRCh37
NC_000023.9:g.77171589G>A	NCBI36
NG_013224.2:g.123740G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.3103G>A (ATP7A) MANE Select	NP_000043.4:p.Ala1035Thr
ENST00000341514.11:c.3103G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ala1035Thr
NM_000052.6:c.3103G>A (ATP7A)	NP_000043.4:p.Ala1035Thr
NM_001282224.1:c.2869G>A (ATP7A)	NP_001269153.1:p.Ala957Thr
NM_001282224.2:c.2869G>A (ATP7A)	NP_001269153.1:p.Ala957Thr
NR_104109.1:n.322-1964G>A (ATP7A)
NR_104109.2:n.285-1964G>A (ATP7A)
ENST00000341514.10:c.3103G>A (ATP7A)	ENSP00000345728.6:p.Ala1035Thr
ENST00000343533.10:c.3133G>A (ATP7A)	ENSP00000343026.6:p.Ala1045Thr
ENST00000343533.9:c.2869G>A (ATP7A)	ENSP00000343026.5:p.Ala957Thr
ENST00000350425.5:c.*2276G>A (ATP7A)	ENSP00000343678.5:n.*2276G>A
ENST00000644362.1:c.-19-80431G>A (PGK1)	ENSP00000496140.1:n.-19-80431G>A
ENST00000645094.1:c.*3017G>A (ATP7A)	ENSP00000493605.1:n.*3017G>A
ENST00000682475.1:n.1520G>A (ATP7A)
ENST00000685033.1:c.376-1964G>A (ATP7A)	ENSP00000509269.1:n.376-1964G>A
ENST00000685264.1:c.3103G>A (ATP7A)	ENSP00000510136.1:p.Ala1035Thr
ENST00000686033.1:c.2917-1964G>A (ATP7A)	ENSP00000510693.1:n.2917-1964G>A
ENST00000686133.1:c.3103G>A (ATP7A)	ENSP00000509233.1:p.Ala1035Thr
ENST00000686255.1:n.2134G>A (ATP7A)
ENST00000686543.1:c.2869G>A (ATP7A)	ENSP00000509477.1:p.Ala957Thr
ENST00000687086.1:c.3103G>A (ATP7A)	ENSP00000509566.1:p.Ala1035Thr
ENST00000689514.1:n.1145G>A (ATP7A)
ENST00000689767.1:c.3196G>A (ATP7A)	ENSP00000509406.1:p.Ala1066Thr
ENST00000692908.1:c.2869G>A (ATP7A)	ENSP00000508627.1:p.Ala957Thr