Canonical Allele Identifier: CA17286846
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs930830514
gnomAD v3: 1-7985311-T-C
gnomAD v4: 1-7985311-T-C
MyVariant Identifiers: chr1:g.8045371T>C (hg19) chr1:g.7985311T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985311T>C , CM000663.2:g.7985311T>C GRCh38
NC_000001.10:g.8045371T>C , CM000663.1:g.8045371T>C GRCh37
NC_000001.9:g.7967958T>C NCBI36
NG_008271.1:g.28658T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*257T>C MANE Select ENSP00000340278.5:n.*257T>C
ENST00000493678.5:c.*257T>C ENSP00000418770.1:n.*257T>C
NM_007262.5:c.*257T>C MANE Select NP_009193.2:n.*257T>C
NM_001123377.2:c.*257T>C NP_001116849.1:n.*257T>C
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