Canonical Allele Identifier: CA413606176

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78046391G>C , CM000685.2:g.78046391G>C	GRCh38
NC_000023.10:g.77301888G>C , CM000685.1:g.77301888G>C	GRCh37
NC_000023.9:g.77188544G>C	NCBI36
NG_013224.2:g.140695G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.4324G>C (ATP7A) MANE Select	NP_000043.4:p.Asp1442His
ENST00000341514.11:c.4324G>C (ATP7A) MANE Select	ENSP00000345728.6:p.Asp1442His
NM_000052.6:c.4324G>C (ATP7A)	NP_000043.4:p.Asp1442His
NM_001282224.1:c.4090G>C (ATP7A)	NP_001269153.1:p.Asp1364His
NM_001282224.2:c.4090G>C (ATP7A)	NP_001269153.1:p.Asp1364His
NR_104109.1:n.1534G>C (ATP7A)
NR_104109.2:n.1497G>C (ATP7A)
ENST00000341514.10:c.4324G>C (ATP7A)	ENSP00000345728.6:p.Asp1442His
ENST00000343533.10:c.4354G>C (ATP7A)	ENSP00000343026.6:p.Asp1452His
ENST00000343533.9:c.4090G>C (ATP7A)	ENSP00000343026.5:p.Asp1364His
ENST00000350425.5:c.*3497G>C (ATP7A)	ENSP00000343678.5:n.*3497G>C
ENST00000644362.1:c.-19-63476G>C (PGK1)	ENSP00000496140.1:n.-19-63476G>C
ENST00000682475.1:n.2741G>C (ATP7A)
ENST00000685033.1:c.1588G>C (ATP7A)	ENSP00000509269.1:p.Asp530His
ENST00000685264.1:c.4324G>C (ATP7A)	ENSP00000510136.1:p.Asp1442His
ENST00000686033.1:c.4129G>C (ATP7A)	ENSP00000510693.1:p.Asp1377His
ENST00000686133.1:c.4324G>C (ATP7A)	ENSP00000509233.1:p.Asp1442His
ENST00000686255.1:n.3355G>C (ATP7A)
ENST00000686543.1:c.4090G>C (ATP7A)	ENSP00000509477.1:p.Asp1364His
ENST00000687086.1:c.4324G>C (ATP7A)	ENSP00000509566.1:p.Asp1442His
ENST00000689083.1:n.1619G>C (ATP7A)
ENST00000689767.1:c.4417G>C (ATP7A)	ENSP00000509406.1:p.Asp1473His
ENST00000692908.1:c.4090G>C (ATP7A)	ENSP00000508627.1:p.Asp1364His