Canonical Allele Identifier: CA2694152238

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs2149100221
• gnomAD v4: X-78021093-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021093A>G , CM000685.2:g.78021093A>G	GRCh38
NC_000023.10:g.77276590A>G , CM000685.1:g.77276590A>G	GRCh37
NC_000023.9:g.77163246A>G	NCBI36
NG_013224.2:g.115397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2946+14A>G (ATP7A)	ENSP00000343026.6:n.2946+14A>G
ENST00000682475.1:n.1333+14A>G (ATP7A)
ENST00000685033.1:c.375+695A>G (ATP7A)	ENSP00000509269.1:n.375+695A>G
ENST00000685264.1:c.2916+14A>G (ATP7A)	ENSP00000510136.1:n.2916+14A>G
ENST00000686033.1:c.2916+14A>G (ATP7A)	ENSP00000510693.1:n.2916+14A>G
ENST00000686133.1:c.2916+14A>G (ATP7A)	ENSP00000509233.1:n.2916+14A>G
ENST00000686255.1:n.1947+14A>G (ATP7A)
ENST00000686543.1:c.2682+14A>G (ATP7A)	ENSP00000509477.1:n.2682+14A>G
ENST00000687086.1:c.2916+14A>G (ATP7A)	ENSP00000509566.1:n.2916+14A>G
ENST00000689514.1:n.958+14A>G (ATP7A)
ENST00000689767.1:c.3009+14A>G (ATP7A)	ENSP00000509406.1:n.3009+14A>G
ENST00000692908.1:c.2682+14A>G (ATP7A)	ENSP00000508627.1:n.2682+14A>G
ENST00000341514.11:c.2916+14A>G (ATP7A) MANE Select	ENSP00000345728.6:n.2916+14A>G
ENST00000644362.1:c.-19-88774A>G (PGK1)	ENSP00000496140.1:n.-19-88774A>G
ENST00000645094.1:c.*2830+14A>G (ATP7A)	ENSP00000493605.1:n.*2830+14A>G
ENST00000341514.10:c.2916+14A>G (ATP7A)	ENSP00000345728.6:n.2916+14A>G
ENST00000343533.9:c.2682+14A>G (ATP7A)	ENSP00000343026.5:n.2682+14A>G
ENST00000350425.5:c.*2089+14A>G (ATP7A)	ENSP00000343678.5:n.*2089+14A>G
NM_000052.6:c.2916+14A>G (ATP7A)	NP_000043.4:n.2916+14A>G
NM_001282224.1:c.2682+14A>G (ATP7A)	NP_001269153.1:n.2682+14A>G
NR_104109.1:n.322-10307A>G (ATP7A)
NM_000052.7:c.2916+14A>G (ATP7A) MANE Select	NP_000043.4:n.2916+14A>G
NR_104109.2:n.285-10307A>G (ATP7A)
NM_001282224.2:c.2682+14A>G (ATP7A)	NP_001269153.1:n.2682+14A>G