Canonical Allele Identifier: CA10459424

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs781994794
• ExAC: X:77289357 G / C
• gnomAD v2: X-77289357-G-C
• gnomAD v4: X-78033859-G-C
• MyVariant Identifiers: chrX:g.77289357G>C (hg19) ; chrX:g.78033859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033859G>C , CM000685.2:g.78033859G>C	GRCh38
NC_000023.10:g.77289357G>C , CM000685.1:g.77289357G>C	GRCh37
NC_000023.9:g.77176013G>C	NCBI36
NG_013224.2:g.128163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.3541+38G>C (ATP7A)	ENSP00000343026.6:n.3541+38G>C
ENST00000682475.1:n.1928+38G>C (ATP7A)
ENST00000685033.1:c.775+38G>C (ATP7A)	ENSP00000509269.1:n.775+38G>C
ENST00000685264.1:c.3511+38G>C (ATP7A)	ENSP00000510136.1:n.3511+38G>C
ENST00000686033.1:c.3316+38G>C (ATP7A)	ENSP00000510693.1:n.3316+38G>C
ENST00000686133.1:c.3511+38G>C (ATP7A)	ENSP00000509233.1:n.3511+38G>C
ENST00000686255.1:n.2542+38G>C (ATP7A)
ENST00000686543.1:c.3277+38G>C (ATP7A)	ENSP00000509477.1:n.3277+38G>C
ENST00000687086.1:c.3511+38G>C (ATP7A)	ENSP00000509566.1:n.3511+38G>C
ENST00000689514.1:n.1553+38G>C (ATP7A)
ENST00000689767.1:c.3604+38G>C (ATP7A)	ENSP00000509406.1:n.3604+38G>C
ENST00000692908.1:c.3277+38G>C (ATP7A)	ENSP00000508627.1:n.3277+38G>C
ENST00000341514.11:c.3511+38G>C (ATP7A) MANE Select	ENSP00000345728.6:n.3511+38G>C
ENST00000644362.1:c.-19-76008G>C (PGK1)	ENSP00000496140.1:n.-19-76008G>C
ENST00000645094.1:c.*3425+38G>C (ATP7A)	ENSP00000493605.1:n.*3425+38G>C
ENST00000341514.10:c.3511+38G>C (ATP7A)	ENSP00000345728.6:n.3511+38G>C
ENST00000343533.9:c.3277+38G>C (ATP7A)	ENSP00000343026.5:n.3277+38G>C
ENST00000350425.5:c.*2684+38G>C (ATP7A)	ENSP00000343678.5:n.*2684+38G>C
NM_000052.6:c.3511+38G>C (ATP7A)	NP_000043.4:n.3511+38G>C
NM_001282224.1:c.3277+38G>C (ATP7A)	NP_001269153.1:n.3277+38G>C
NR_104109.1:n.721+38G>C (ATP7A)
NM_000052.7:c.3511+38G>C (ATP7A) MANE Select	NP_000043.4:n.3511+38G>C
NR_104109.2:n.684+38G>C (ATP7A)
NM_001282224.2:c.3277+38G>C (ATP7A)	NP_001269153.1:n.3277+38G>C