Canonical Allele Identifier: CA642476781

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557234074
• gnomAD v2: X-77264584-C-G
• gnomAD v3: X-78009087-C-G
• gnomAD v4: X-78009087-C-G
• MyVariant Identifiers: chrX:g.77264584C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009087C>G , CM000685.2:g.78009087C>G	GRCh38
NC_000023.10:g.77264584C>G , CM000685.1:g.77264584C>G	GRCh37
NC_000023.9:g.77151240C>G	NCBI36
NG_013224.2:g.103391C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.1738-15C>G (ATP7A)	ENSP00000343026.6:n.1738-15C>G
ENST00000682742.2:n.1870-15C>G (ATP7A)
ENST00000685264.1:c.1708-15C>G (ATP7A)	ENSP00000510136.1:n.1708-15C>G
ENST00000685434.1:n.1742-15C>G (ATP7A)
ENST00000686033.1:c.1708-15C>G (ATP7A)	ENSP00000510693.1:n.1708-15C>G
ENST00000686133.1:c.1708-15C>G (ATP7A)	ENSP00000509233.1:n.1708-15C>G
ENST00000686416.1:n.2062-15C>G (ATP7A)
ENST00000686480.1:c.1708-15C>G (ATP7A)	ENSP00000508978.1:n.1708-15C>G
ENST00000686515.1:n.1848-15C>G (ATP7A)
ENST00000686543.1:c.1708-15C>G (ATP7A)	ENSP00000509477.1:n.1708-15C>G
ENST00000686688.1:c.1708-15C>G (ATP7A)	ENSP00000509416.1:n.1708-15C>G
ENST00000686999.1:n.2019-15C>G (ATP7A)
ENST00000687086.1:c.1708-15C>G (ATP7A)	ENSP00000509566.1:n.1708-15C>G
ENST00000687628.1:n.1809-15C>G (ATP7A)
ENST00000688746.1:n.1860-15C>G (ATP7A)
ENST00000689530.1:c.1708-15C>G (ATP7A)	ENSP00000509707.1:n.1708-15C>G
ENST00000689541.1:n.2017-15C>G (ATP7A)
ENST00000689649.1:c.1708-15C>G (ATP7A)	ENSP00000509277.1:n.1708-15C>G
ENST00000689767.1:c.1801-15C>G (ATP7A)	ENSP00000509406.1:n.1801-15C>G
ENST00000689872.1:c.1708-15C>G (ATP7A)	ENSP00000509373.1:n.1708-15C>G
ENST00000692110.1:c.1624-15C>G (ATP7A)	ENSP00000509366.1:n.1624-15C>G
ENST00000692908.1:c.1708-15C>G (ATP7A)	ENSP00000508627.1:n.1708-15C>G
ENST00000693387.1:c.*1637-15C>G (ATP7A)	ENSP00000508732.1:n.*1637-15C>G
ENST00000693398.1:c.1708-15C>G (ATP7A)	ENSP00000510089.1:n.1708-15C>G
ENST00000341514.11:c.1708-15C>G (ATP7A) MANE Select	ENSP00000345728.6:n.1708-15C>G
ENST00000644362.1:c.-20+98252C>G (PGK1)	ENSP00000496140.1:n.-20+98252C>G
ENST00000645094.1:c.*1622-15C>G (ATP7A)	ENSP00000493605.1:n.*1622-15C>G
ENST00000341514.10:c.1708-15C>G (ATP7A)	ENSP00000345728.6:n.1708-15C>G
ENST00000343533.9:c.1708-15C>G (ATP7A)	ENSP00000343026.5:n.1708-15C>G
ENST00000350425.5:c.*881-15C>G (ATP7A)	ENSP00000343678.5:n.*881-15C>G
NM_000052.6:c.1708-15C>G (ATP7A)	NP_000043.4:n.1708-15C>G
NM_001282224.1:c.1708-15C>G (ATP7A)	NP_001269153.1:n.1708-15C>G
NR_104109.1:n.322-22313C>G (ATP7A)
NM_000052.7:c.1708-15C>G (ATP7A) MANE Select	NP_000043.4:n.1708-15C>G
NR_104109.2:n.285-22313C>G (ATP7A)
NM_001282224.2:c.1708-15C>G (ATP7A)	NP_001269153.1:n.1708-15C>G