Canonical Allele Identifier: CA2439112228

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78048530T= , CM000685.2:g.78048530T=	GRCh38
NC_000023.10:g.77304027T= , CM000685.1:g.77304027T=	GRCh37
NC_000023.9:g.77190683T=	NCBI36
NG_013224.2:g.142834T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.*1960T= (ATP7A)	ENSP00000343026.6:n.*1960T=
ENST00000682475.1:n.4880T= (ATP7A)
ENST00000685033.1:c.3727T= (ATP7A)	ENSP00000509269.1:n.3727T=
ENST00000686255.1:n.5494T= (ATP7A)
ENST00000689083.1:n.3758T= (ATP7A)
ENST00000689767.1:c.*1960T= (ATP7A)	ENSP00000509406.1:n.*1960T=
ENST00000341514.11:c.*1960T= (ATP7A) MANE Select	ENSP00000345728.6:n.*1960T=
ENST00000644362.1:c.-19-61337T= (PGK1)	ENSP00000496140.1:n.-19-61337T=
ENST00000341514.10:c.*1960T= (ATP7A)	ENSP00000345728.6:n.*1960T=
ENST00000343533.9:c.*1960T= (ATP7A)	ENSP00000343026.5:n.*1960T=
NM_000052.6:c.*1960T= (ATP7A)	NP_000043.4:n.*1960T=
NM_001282224.1:c.*1960T= (ATP7A)	NP_001269153.1:n.*1960T=
NR_104109.1:n.3673T= (ATP7A)
NM_000052.7:c.*1960T= (ATP7A) MANE Select	NP_000043.4:n.*1960T=
NR_104109.2:n.3636T= (ATP7A)
NM_001282224.2:c.*1960T= (ATP7A)	NP_001269153.1:n.*1960T=