Canonical Allele Identifier: CA1152148015
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs1640796871
gnomAD v4: 1-7985283-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985283C>G , CM000663.2:g.7985283C>G GRCh38
NC_000001.10:g.8045343C>G , CM000663.1:g.8045343C>G GRCh37
NC_000001.9:g.7967930C>G NCBI36
NG_008271.1:g.28630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*229C>G MANE Select ENSP00000340278.5:n.*229C>G
ENST00000493678.5:c.*229C>G ENSP00000418770.1:n.*229C>G
XM_005263424.2:c.*229C>G XP_005263481.1:n.*229C>G
NM_007262.5:c.*229C>G MANE Select NP_009193.2:n.*229C>G
NM_001123377.2:c.*229C>G NP_001116849.1:n.*229C>G
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