Canonical Allele Identifier: CA998307818
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1640796966
gnomAD v3: 1-7985296-G-A
gnomAD v4: 1-7985296-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985296G>A , CM000663.2:g.7985296G>A GRCh38
NC_000001.10:g.8045356G>A , CM000663.1:g.8045356G>A GRCh37
NC_000001.9:g.7967943G>A NCBI36
NG_008271.1:g.28643G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*242G>A MANE Select ENSP00000340278.5:n.*242G>A
ENST00000493678.5:c.*242G>A ENSP00000418770.1:n.*242G>A
NM_007262.5:c.*242G>A MANE Select NP_009193.2:n.*242G>A
NM_001123377.2:c.*242G>A NP_001116849.1:n.*242G>A
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