Canonical Allele Identifier: CA2694153924

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78045465-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78045465C>A , CM000685.2:g.78045465C>A	GRCh38
NC_000023.10:g.77300962C>A , CM000685.1:g.77300962C>A	GRCh37
NC_000023.9:g.77187618C>A	NCBI36
NG_013224.2:g.139769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.4154-5C>A (ATP7A)	ENSP00000343026.6:n.4154-5C>A
ENST00000682475.1:n.2541-5C>A (ATP7A)
ENST00000685033.1:c.1388-5C>A (ATP7A)	ENSP00000509269.1:n.1388-5C>A
ENST00000685264.1:c.4124-5C>A (ATP7A)	ENSP00000510136.1:n.4124-5C>A
ENST00000686033.1:c.3929-5C>A (ATP7A)	ENSP00000510693.1:n.3929-5C>A
ENST00000686133.1:c.4124-5C>A (ATP7A)	ENSP00000509233.1:n.4124-5C>A
ENST00000686255.1:n.3155-5C>A (ATP7A)
ENST00000686543.1:c.3890-5C>A (ATP7A)	ENSP00000509477.1:n.3890-5C>A
ENST00000687086.1:c.4124-5C>A (ATP7A)	ENSP00000509566.1:n.4124-5C>A
ENST00000689083.1:n.1414C>A (ATP7A)
ENST00000689767.1:c.4217-5C>A (ATP7A)	ENSP00000509406.1:n.4217-5C>A
ENST00000692908.1:c.3890-5C>A (ATP7A)	ENSP00000508627.1:n.3890-5C>A
ENST00000341514.11:c.4124-5C>A (ATP7A) MANE Select	ENSP00000345728.6:n.4124-5C>A
ENST00000644362.1:c.-19-64402C>A (PGK1)	ENSP00000496140.1:n.-19-64402C>A
ENST00000341514.10:c.4124-5C>A (ATP7A)	ENSP00000345728.6:n.4124-5C>A
ENST00000343533.9:c.3890-5C>A (ATP7A)	ENSP00000343026.5:n.3890-5C>A
ENST00000350425.5:c.*3297-5C>A (ATP7A)	ENSP00000343678.5:n.*3297-5C>A
NM_000052.6:c.4124-5C>A (ATP7A)	NP_000043.4:n.4124-5C>A
NM_001282224.1:c.3890-5C>A (ATP7A)	NP_001269153.1:n.3890-5C>A
NR_104109.1:n.1334-5C>A (ATP7A)
NM_000052.7:c.4124-5C>A (ATP7A) MANE Select	NP_000043.4:n.4124-5C>A
NR_104109.2:n.1297-5C>A (ATP7A)
NM_001282224.2:c.3890-5C>A (ATP7A)	NP_001269153.1:n.3890-5C>A