Canonical Allele Identifier: CA331096697

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1047495852
• gnomAD v3: X-78011322-G-C
• gnomAD v4: X-78011322-G-C
• MyVariant Identifiers: chrX:g.78011322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011322G>C , CM000685.2:g.78011322G>C	GRCh38
NC_000023.10:g.77266819G>C , CM000685.1:g.77266819G>C	GRCh37
NC_000023.9:g.77153475G>C	NCBI36
NG_013224.2:g.105626G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1976+70G>C (ATP7A)	ENSP00000343026.6:n.1976+70G>C
ENST00000682475.1:n.471G>C (ATP7A)
ENST00000685264.1:c.1946+70G>C (ATP7A)	ENSP00000510136.1:n.1946+70G>C
ENST00000686033.1:c.1946+70G>C (ATP7A)	ENSP00000510693.1:n.1946+70G>C
ENST00000686133.1:c.1946+70G>C (ATP7A)	ENSP00000509233.1:n.1946+70G>C
ENST00000686255.1:n.851G>C (ATP7A)
ENST00000686480.1:c.1946+70G>C (ATP7A)	ENSP00000508978.1:n.1946+70G>C
ENST00000686515.1:n.2086+70G>C (ATP7A)
ENST00000686543.1:c.1946+70G>C (ATP7A)	ENSP00000509477.1:n.1946+70G>C
ENST00000686688.1:c.1946+70G>C (ATP7A)	ENSP00000509416.1:n.1946+70G>C
ENST00000686999.1:n.2257+70G>C (ATP7A)
ENST00000687086.1:c.1946+70G>C (ATP7A)	ENSP00000509566.1:n.1946+70G>C
ENST00000687628.1:n.4029G>C (ATP7A)
ENST00000688746.1:n.2098+70G>C (ATP7A)
ENST00000689530.1:c.1946+70G>C (ATP7A)	ENSP00000509707.1:n.1946+70G>C
ENST00000689649.1:c.1946+70G>C (ATP7A)	ENSP00000509277.1:n.1946+70G>C
ENST00000689767.1:c.2039+70G>C (ATP7A)	ENSP00000509406.1:n.2039+70G>C
ENST00000689872.1:c.1870-127G>C (ATP7A)	ENSP00000509373.1:n.1870-127G>C
ENST00000692110.1:c.1862+70G>C (ATP7A)	ENSP00000509366.1:n.1862+70G>C
ENST00000692908.1:c.1946+70G>C (ATP7A)	ENSP00000508627.1:n.1946+70G>C
ENST00000693398.1:c.1946+70G>C (ATP7A)	ENSP00000510089.1:n.1946+70G>C
ENST00000341514.11:c.1946+70G>C (ATP7A) MANE Select	ENSP00000345728.6:n.1946+70G>C
ENST00000644362.1:c.-19-98545G>C (PGK1)	ENSP00000496140.1:n.-19-98545G>C
ENST00000645094.1:c.*1860+70G>C (ATP7A)	ENSP00000493605.1:n.*1860+70G>C
ENST00000341514.10:c.1946+70G>C (ATP7A)	ENSP00000345728.6:n.1946+70G>C
ENST00000343533.9:c.1946+70G>C (ATP7A)	ENSP00000343026.5:n.1946+70G>C
ENST00000350425.5:c.*1119+70G>C (ATP7A)	ENSP00000343678.5:n.*1119+70G>C
NM_000052.6:c.1946+70G>C (ATP7A)	NP_000043.4:n.1946+70G>C
NM_001282224.1:c.1946+70G>C (ATP7A)	NP_001269153.1:n.1946+70G>C
NR_104109.1:n.322-20078G>C (ATP7A)
NM_000052.7:c.1946+70G>C (ATP7A) MANE Select	NP_000043.4:n.1946+70G>C
NR_104109.2:n.285-20078G>C (ATP7A)
NM_001282224.2:c.1946+70G>C (ATP7A)	NP_001269153.1:n.1946+70G>C