Canonical Allele Identifier: CA331111273

Linked Data

dbSNP Id: rs1062472
gnomAD v2: X-77304027-T-C
gnomAD v3: X-78048530-T-C
gnomAD v4: X-78048530-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78048530T>C , CM000685.2:g.78048530T>C GRCh38
NC_000023.10:g.77304027T>C , CM000685.1:g.77304027T>C GRCh37
NC_000023.9:g.77190683T>C NCBI36
NG_013224.2:g.142834T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.*1960T>C (ATP7A) ENSP00000343026.6:n.*1960T>C
ENST00000682475.1:n.4880T>C (ATP7A)
ENST00000685033.1:c.3727T>C (ATP7A) ENSP00000509269.1:n.3727T>C
ENST00000686255.1:n.5494T>C (ATP7A)
ENST00000689083.1:n.3758T>C (ATP7A)
ENST00000689767.1:c.*1960T>C (ATP7A) ENSP00000509406.1:n.*1960T>C
ENST00000341514.11:c.*1960T>C (ATP7A) MANE Select ENSP00000345728.6:n.*1960T>C
ENST00000644362.1:c.-19-61337T>C (PGK1) ENSP00000496140.1:n.-19-61337T>C
ENST00000341514.10:c.*1960T>C (ATP7A) ENSP00000345728.6:n.*1960T>C
ENST00000343533.9:c.*1960T>C (ATP7A) ENSP00000343026.5:n.*1960T>C
NM_000052.6:c.*1960T>C (ATP7A) NP_000043.4:n.*1960T>C
NM_001282224.1:c.*1960T>C (ATP7A) NP_001269153.1:n.*1960T>C
NR_104109.1:n.3673T>C (ATP7A)
NM_000052.7:c.*1960T>C (ATP7A) MANE Select NP_000043.4:n.*1960T>C
NR_104109.2:n.3636T>C (ATP7A)
NM_001282224.2:c.*1960T>C (ATP7A) NP_001269153.1:n.*1960T>C