Canonical Allele Identifier: CA413602517

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78020327G>A , CM000685.2:g.78020327G>A	GRCh38
NC_000023.10:g.77275824G>A , CM000685.1:g.77275824G>A	GRCh37
NC_000023.9:g.77162480G>A	NCBI36
NG_013224.2:g.114631G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000052.7:c.2710G>A (ATP7A) MANE Select	NP_000043.4:p.Ala904Thr
ENST00000341514.11:c.2710G>A (ATP7A) MANE Select	ENSP00000345728.6:p.Ala904Thr
NM_000052.6:c.2710G>A (ATP7A)	NP_000043.4:p.Ala904Thr
NM_001282224.1:c.2476G>A (ATP7A)	NP_001269153.1:p.Ala826Thr
NM_001282224.2:c.2476G>A (ATP7A)	NP_001269153.1:p.Ala826Thr
NR_104109.1:n.322-11073G>A (ATP7A)
NR_104109.2:n.285-11073G>A (ATP7A)
ENST00000341514.10:c.2710G>A (ATP7A)	ENSP00000345728.6:p.Ala904Thr
ENST00000343533.10:c.2740G>A (ATP7A)	ENSP00000343026.6:p.Ala914Thr
ENST00000343533.9:c.2476G>A (ATP7A)	ENSP00000343026.5:p.Ala826Thr
ENST00000350425.5:c.*1883G>A (ATP7A)	ENSP00000343678.5:n.*1883G>A
ENST00000644362.1:c.-19-89540G>A (PGK1)	ENSP00000496140.1:n.-19-89540G>A
ENST00000645094.1:c.*2624G>A (ATP7A)	ENSP00000493605.1:n.*2624G>A
ENST00000682475.1:n.1127G>A (ATP7A)
ENST00000685033.1:c.304G>A (ATP7A)	ENSP00000509269.1:p.Ala102Thr
ENST00000685264.1:c.2710G>A (ATP7A)	ENSP00000510136.1:p.Ala904Thr
ENST00000686033.1:c.2710G>A (ATP7A)	ENSP00000510693.1:p.Ala904Thr
ENST00000686133.1:c.2710G>A (ATP7A)	ENSP00000509233.1:p.Ala904Thr
ENST00000686255.1:n.1741G>A (ATP7A)
ENST00000686543.1:c.2476G>A (ATP7A)	ENSP00000509477.1:p.Ala826Thr
ENST00000686688.1:c.2710G>A (ATP7A)	ENSP00000509416.1:p.Ala904Thr
ENST00000687086.1:c.2710G>A (ATP7A)	ENSP00000509566.1:p.Ala904Thr
ENST00000689514.1:n.752G>A (ATP7A)
ENST00000689530.1:c.2710G>A (ATP7A)	ENSP00000509707.1:p.Ala904Thr
ENST00000689767.1:c.2803G>A (ATP7A)	ENSP00000509406.1:p.Ala935Thr
ENST00000692908.1:c.2476G>A (ATP7A)	ENSP00000508627.1:p.Ala826Thr
ENST00000693398.1:c.2710G>A (ATP7A)	ENSP00000510089.1:p.Ala904Thr