Canonical Allele Identifier: CA17286845
Gene: PARK7 HGNC NCBI

Linked Data

dbSNP Id: rs573772821
gnomAD v3: 1-7985305-C-G
gnomAD v4: 1-7985305-C-G
MyVariant Identifiers: chr1:g.8045365C>G (hg19) chr1:g.7985305C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7985305C>G , CM000663.2:g.7985305C>G GRCh38
NC_000001.10:g.8045365C>G , CM000663.1:g.8045365C>G GRCh37
NC_000001.9:g.7967952C>G NCBI36
NG_008271.1:g.28652C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.10:c.*251C>G MANE Select ENSP00000340278.5:n.*251C>G
ENST00000493678.5:c.*251C>G ENSP00000418770.1:n.*251C>G
NM_007262.5:c.*251C>G MANE Select NP_009193.2:n.*251C>G
NM_001123377.2:c.*251C>G NP_001116849.1:n.*251C>G
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