Canonical Allele Identifier: CA2439103670

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021066A= , CM000685.2:g.78021066A=	GRCh38
NC_000023.10:g.77276563A= , CM000685.1:g.77276563A=	GRCh37
NC_000023.9:g.77163219A=	NCBI36
NG_013224.2:g.115370A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.2903A= (ATP7A) MANE Select	NP_000043.4:p.Glu968=
ENST00000341514.11:c.2903A= (ATP7A) MANE Select	ENSP00000345728.6:p.Glu968=
NM_000052.6:c.2903A= (ATP7A)	NP_000043.4:p.Glu968=
NM_001282224.1:c.2669A= (ATP7A)	NP_001269153.1:p.Glu890=
NM_001282224.2:c.2669A= (ATP7A)	NP_001269153.1:p.Glu890=
NR_104109.1:n.322-10334A= (ATP7A)
NR_104109.2:n.285-10334A= (ATP7A)
ENST00000341514.10:c.2903A= (ATP7A)	ENSP00000345728.6:p.Glu968=
ENST00000343533.10:c.2933A= (ATP7A)	ENSP00000343026.6:p.Glu978=
ENST00000343533.9:c.2669A= (ATP7A)	ENSP00000343026.5:p.Glu890=
ENST00000350425.5:c.*2076A= (ATP7A)	ENSP00000343678.5:n.*2076A=
ENST00000644362.1:c.-19-88801A= (PGK1)	ENSP00000496140.1:n.-19-88801A=
ENST00000645094.1:c.*2817A= (ATP7A)	ENSP00000493605.1:n.*2817A=
ENST00000682475.1:n.1320A= (ATP7A)
ENST00000685033.1:c.375+668A= (ATP7A)	ENSP00000509269.1:n.375+668A=
ENST00000685264.1:c.2903A= (ATP7A)	ENSP00000510136.1:p.Glu968=
ENST00000686033.1:c.2903A= (ATP7A)	ENSP00000510693.1:p.Glu968=
ENST00000686133.1:c.2903A= (ATP7A)	ENSP00000509233.1:p.Glu968=
ENST00000686255.1:n.1934A= (ATP7A)
ENST00000686543.1:c.2669A= (ATP7A)	ENSP00000509477.1:p.Glu890=
ENST00000687086.1:c.2903A= (ATP7A)	ENSP00000509566.1:p.Glu968=
ENST00000689514.1:n.945A= (ATP7A)
ENST00000689530.1:c.2903A= (ATP7A)	ENSP00000509707.1:p.Glu968=
ENST00000689767.1:c.2996A= (ATP7A)	ENSP00000509406.1:p.Glu999=
ENST00000692908.1:c.2669A= (ATP7A)	ENSP00000508627.1:p.Glu890=