Canonical Allele Identifier: CA10459214

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs782470669
• ExAC: X:77267268 A / C
• gnomAD v2: X-77267268-A-C
• gnomAD v4: X-78011771-A-C
• MyVariant Identifiers: chrX:g.77267268A>C (hg19) ; chrX:g.78011771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011771A>C , CM000685.2:g.78011771A>C	GRCh38
NC_000023.10:g.77267268A>C , CM000685.1:g.77267268A>C	GRCh37
NC_000023.9:g.77153924A>C	NCBI36
NG_013224.2:g.106075A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.2202+97A>C (ATP7A)	ENSP00000343026.6:n.2202+97A>C
ENST00000682475.1:n.823+97A>C (ATP7A)
ENST00000685264.1:c.2172+97A>C (ATP7A)	ENSP00000510136.1:n.2172+97A>C
ENST00000686033.1:c.2172+97A>C (ATP7A)	ENSP00000510693.1:n.2172+97A>C
ENST00000686133.1:c.2172+97A>C (ATP7A)	ENSP00000509233.1:n.2172+97A>C
ENST00000686255.1:n.1203+97A>C (ATP7A)
ENST00000686480.1:c.2172+97A>C (ATP7A)	ENSP00000508978.1:n.2172+97A>C
ENST00000686515.1:n.2312+97A>C (ATP7A)
ENST00000686543.1:c.2172+97A>C (ATP7A)	ENSP00000509477.1:n.2172+97A>C
ENST00000686688.1:c.2172+97A>C (ATP7A)	ENSP00000509416.1:n.2172+97A>C
ENST00000686999.1:n.2580A>C (ATP7A)
ENST00000687086.1:c.2172+97A>C (ATP7A)	ENSP00000509566.1:n.2172+97A>C
ENST00000687628.1:n.4478A>C (ATP7A)
ENST00000688746.1:n.2421A>C (ATP7A)
ENST00000689514.1:n.214+97A>C (ATP7A)
ENST00000689530.1:c.2172+97A>C (ATP7A)	ENSP00000509707.1:n.2172+97A>C
ENST00000689649.1:c.2172+97A>C (ATP7A)	ENSP00000509277.1:n.2172+97A>C
ENST00000689767.1:c.2265+97A>C (ATP7A)	ENSP00000509406.1:n.2265+97A>C
ENST00000689872.1:c.*121+97A>C (ATP7A)	ENSP00000509373.1:n.*121+97A>C
ENST00000692908.1:c.2172+97A>C (ATP7A)	ENSP00000508627.1:n.2172+97A>C
ENST00000693398.1:c.2172+97A>C (ATP7A)	ENSP00000510089.1:n.2172+97A>C
ENST00000341514.11:c.2172+97A>C (ATP7A) MANE Select	ENSP00000345728.6:n.2172+97A>C
ENST00000644362.1:c.-19-98096A>C (PGK1)	ENSP00000496140.1:n.-19-98096A>C
ENST00000645094.1:c.*2086+97A>C (ATP7A)	ENSP00000493605.1:n.*2086+97A>C
ENST00000341514.10:c.2172+97A>C (ATP7A)	ENSP00000345728.6:n.2172+97A>C
ENST00000343533.9:c.2172+97A>C (ATP7A)	ENSP00000343026.5:n.2172+97A>C
ENST00000350425.5:c.*1345+97A>C (ATP7A)	ENSP00000343678.5:n.*1345+97A>C
NM_000052.6:c.2172+97A>C (ATP7A)	NP_000043.4:n.2172+97A>C
NM_001282224.1:c.2172+97A>C (ATP7A)	NP_001269153.1:n.2172+97A>C
NR_104109.1:n.322-19629A>C (ATP7A)
NM_000052.7:c.2172+97A>C (ATP7A) MANE Select	NP_000043.4:n.2172+97A>C
NR_104109.2:n.285-19629A>C (ATP7A)
NM_001282224.2:c.2172+97A>C (ATP7A)	NP_001269153.1:n.2172+97A>C