Canonical Allele Identifier: CA520792778
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1439024397
gnomAD v2: 1-8045348-T-G
gnomAD v3: 1-7985288-T-G
gnomAD v4: 1-7985288-T-G
MyVariant Identifiers: chr1:g.8045348T>G (hg19) chr1:g.7985288T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985288T>G , CM000663.2:g.7985288T>G GRCh38
NC_000001.10:g.8045348T>G , CM000663.1:g.8045348T>G GRCh37
NC_000001.9:g.7967935T>G NCBI36
NG_008271.1:g.28635T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*234T>G MANE Select ENSP00000340278.5:n.*234T>G
ENST00000493678.5:c.*234T>G ENSP00000418770.1:n.*234T>G
NM_007262.5:c.*234T>G MANE Select NP_009193.2:n.*234T>G
NM_001123377.2:c.*234T>G NP_001116849.1:n.*234T>G
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