LDH info

Canonical Allele Identifier: CA206236
Gene: ATP7A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 210393
dbSNP Id: rs143907597

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77998657A>G , CM000685.2:g.77998657A>G GRCh38
NC_000023.10:g.77254154A>G , CM000685.1:g.77254154A>G GRCh37
NC_000023.9:g.77140810A>G NCBI36
NG_013224.2:g.92961A>G

Transcript Alleles

HGVS Amino-acid change
NM_000052.6:c.1516A>G VV NP_000043.4:p.Ile506Val
NM_001282224.1:c.1516A>G VV NP_001269153.1:p.Ile506Val
NR_104109.1:n.321+26896A>G
NM_000052.7:c.1516A>G VV MANE Preferred NP_000043.4:p.Ile506Val
ENST00000341514.10:c.1516A>G ENSP00000345728.6:p.Ile506Val
ENST00000343533.9:c.1516A>G ENSP00000343026.5:p.Ile506Val
ENST00000350425.5:c.*689A>G ENSP00000343678.5:p.=